Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.108257564T>G , CM000673.2:g.108257564T>G	GRCh38
NC_000011.9:g.108128291T>G , CM000673.1:g.108128291T>G	GRCh37
NC_000011.8:g.107633501T>G	NCBI36
NG_009830.1:g.39733T>G , LRG_135:g.39733T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_000051.4:c.2334T>G MANE Select	NP_000042.3:p.Asn778Lys
ENST00000675843.1:c.2334T>G MANE Select	ENSP00000501606.1:p.Asn778Lys
NM_000051.3:c.2334T>G , LRG_135t1:c.2334T>G	NP_000042.3:p.Asn778Lys
NM_001351834.1:c.2334T>G	NP_001338763.1:p.Asn778Lys
NM_001351834.2:c.2334T>G	NP_001338763.1:p.Asn778Lys
ENST00000278616.8:c.2334T>G	ENSP00000278616.4:p.Asn778Lys
ENST00000278616.9:c.2334T>G	ENSP00000278616.4:p.Asn778Lys
ENST00000452508.6:c.2334T>G	ENSP00000388058.2:p.Asn778Lys
ENST00000452508.7:c.2334T>G	ENSP00000388058.2:p.Asn778Lys
ENST00000527805.5:c.2334T>G	ENSP00000435747.1:p.Asn778Lys
ENST00000527805.6:c.2334T>G	ENSP00000435747.2:p.Asn778Lys
ENST00000675595.1:c.2169T>G	ENSP00000502563.1:p.Asn723Lys
ENST00000682516.1:n.2468T>G
ENST00000683174.1:n.2484T>G
ENST00000683605.1:n.1829T>G
ENST00000684037.1:c.*1269T>G	ENSP00000508245.1:n.*1269T>G
ENST00000713593.1:c.*1805T>G	ENSP00000518889.1:n.*1805T>G
XM_005271561.3:c.2334T>G	XP_005271618.2:p.Asn778Lys
XM_005271562.3:c.2334T>G	XP_005271619.2:p.Asn778Lys
XM_005271562.5:c.2334T>G	XP_005271619.2:p.Asn778Lys
XM_006718843.2:c.2334T>G	XP_006718906.1:p.Asn778Lys
XM_006718843.4:c.2334T>G	XP_006718906.1:p.Asn778Lys
XM_011542840.1:c.2334T>G	XP_011541142.1:p.Asn778Lys
XM_011542840.3:c.2334T>G	XP_011541142.1:p.Asn778Lys
XM_011542841.1:c.2334T>G	XP_011541143.1:p.Asn778Lys
XM_011542842.1:c.2169T>G	XP_011541144.1:p.Asn723Lys
XM_011542842.3:c.2169T>G	XP_011541144.1:p.Asn723Lys
XM_011542843.1:c.2334T>G	XP_011541145.1:p.Asn778Lys
XM_011542843.2:c.2334T>G	XP_011541145.1:p.Asn778Lys
XM_011542844.1:c.1290T>G	XP_011541146.1:p.Asn430Lys
XM_011542844.3:c.1290T>G	XP_011541146.1:p.Asn430Lys
XM_011542845.1:c.1026T>G	XP_011541147.1:p.Asn342Lys
XM_011542845.2:c.1026T>G	XP_011541147.1:p.Asn342Lys
XM_011542846.1:c.2334T>G	XP_011541148.1:p.Asn778Lys
XM_017017789.2:c.2334T>G	XP_016873278.1:p.Asn778Lys
XM_017017790.2:c.2334T>G	XP_016873279.1:p.Asn778Lys
XM_017017791.1:c.2334T>G	XP_016873280.1:p.Asn778Lys
XM_017017792.2:c.2334T>G	XP_016873281.1:p.Asn778Lys
XR_002957150.1:n.3067T>G