Allele Registry

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Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.102843314A= , CM000674.2:g.102843314A=	GRCh38
NC_000012.11:g.103237092A= , CM000674.1:g.103237092A=	GRCh37
NC_000012.10:g.101761222A=	NCBI36
NG_008690.1:g.79289T=
NG_008690.2:g.120097T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553106.6:c.1199+332T= MANE Select	ENSP00000448059.1:n.1199+332T=
ENST00000307000.7:c.1184+332T=	ENSP00000303500.2:n.1184+332T=
ENST00000549247.6:n.958+332T=
ENST00000551114.2:n.861+332T=
ENST00000553106.5:c.1199+332T=	ENSP00000448059.1:n.1199+332T=
ENST00000635477.1:c.303+332T=
ENST00000635528.1:n.714+332T=
NM_000277.1:c.1199+332T=	NP_000268.1:n.1199+332T=
XM_011538422.1:c.1142+332T=	XP_011536724.1:n.1142+332T=
NM_000277.2:c.1199+332T=	NP_000268.1:n.1199+332T=
NM_001354304.1:c.1199+332T=	NP_001341233.1:n.1199+332T=
NM_000277.3:c.1199+332T= MANE Select	NP_000268.1:n.1199+332T=
NM_001354304.2:c.1199+332T=	NP_001341233.1:n.1199+332T=