Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112841125A>G , CM000667.2:g.112841125A>G	GRCh38
NC_000005.9:g.112176822A>G , CM000667.1:g.112176822A>G	GRCh37
NC_000005.8:g.112204721A>G	NCBI36
NG_008481.4:g.153605A>G , LRG_130:g.153605A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000504915.3:c.5585A>G	ENSP00000473355.2:p.His1862Arg
ENST00000505350.2:c.*5537A>G	ENSP00000481752.1:n.*5537A>G
ENST00000507379.6:c.5477A>G	ENSP00000423224.2:p.His1826Arg
ENST00000509732.6:c.5531A>G	ENSP00000426541.2:p.His1844Arg
ENST00000512211.7:c.5531A>G	ENSP00000423828.3:p.His1844Arg
ENST00000257430.9:c.5531A>G MANE Select	ENSP00000257430.4:p.His1844Arg
ENST00000257430.8:c.5531A>G	ENSP00000257430.4:p.His1844Arg
ENST00000508376.6:c.5531A>G	ENSP00000427089.2:p.His1844Arg
ENST00000508624.5:c.*4853A>G	ENSP00000424265.1:n.*4853A>G
ENST00000520401.1:c.230+12153A>G
NM_000038.5:c.5531A>G	NP_000029.2:p.His1844Arg
NM_001127510.2:c.5531A>G	NP_001120982.1:p.His1844Arg
NM_001127511.2:c.5477A>G	NP_001120983.2:p.His1826Arg
NM_001354895.1:c.5531A>G	NP_001341824.1:p.His1844Arg
NM_001354896.1:c.5585A>G	NP_001341825.1:p.His1862Arg
NM_001354897.1:c.5561A>G	NP_001341826.1:p.His1854Arg
NM_001354898.1:c.5456A>G	NP_001341827.1:p.His1819Arg
NM_001354899.1:c.5447A>G	NP_001341828.1:p.His1816Arg
NM_001354900.1:c.5408A>G	NP_001341829.1:p.His1803Arg
NM_001354901.1:c.5354A>G	NP_001341830.1:p.His1785Arg
NM_001354902.1:c.5258A>G	NP_001341831.1:p.His1753Arg
NM_001354903.1:c.5228A>G	NP_001341832.1:p.His1743Arg
NM_001354904.1:c.5153A>G	NP_001341833.1:p.His1718Arg
NM_001354905.1:c.5051A>G	NP_001341834.1:p.His1684Arg
NM_001354906.1:c.4682A>G	NP_001341835.1:p.His1561Arg
NM_000038.6:c.5531A>G MANE Select	NP_000029.2:p.His1844Arg
NM_001127510.3:c.5531A>G	NP_001120982.1:p.His1844Arg
NM_001127511.3:c.5477A>G	NP_001120983.2:p.His1826Arg
NM_001354895.2:c.5531A>G	NP_001341824.1:p.His1844Arg
NM_001354896.2:c.5585A>G	NP_001341825.1:p.His1862Arg
NM_001354897.2:c.5561A>G	NP_001341826.1:p.His1854Arg
NM_001354898.2:c.5456A>G	NP_001341827.1:p.His1819Arg
NM_001354899.2:c.5447A>G	NP_001341828.1:p.His1816Arg
NM_001354900.2:c.5408A>G	NP_001341829.1:p.His1803Arg
NM_001354901.2:c.5354A>G	NP_001341830.1:p.His1785Arg
NM_001354902.2:c.5258A>G	NP_001341831.1:p.His1753Arg
NM_001354903.2:c.5228A>G	NP_001341832.1:p.His1743Arg
NM_001354904.2:c.5153A>G	NP_001341833.1:p.His1718Arg
NM_001354905.2:c.5051A>G	NP_001341834.1:p.His1684Arg
NM_001354906.2:c.4682A>G	NP_001341835.1:p.His1561Arg