Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.55313266T>C , CM000681.2:g.55313266T>C	GRCh38
NC_000019.9:g.55824634T>C , CM000681.1:g.55824634T>C	GRCh37
NC_000019.8:g.60516446T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000326652.9:c.506-211A>G MANE Select	ENSP00000320757.4:n.506-211A>G
ENST00000326652.8:c.506-211A>G	ENSP00000320757.4:n.506-211A>G
ENST00000585918.5:c.371-211A>G	ENSP00000465672.2:n.371-211A>G
ENST00000586609.5:c.*246-211A>G	ENSP00000466957.1:n.*246-211A>G
ENST00000592603.5:c.*246-211A>G	ENSP00000468745.1:n.*246-211A>G
ENST00000592731.5:c.*134-211A>G	ENSP00000465815.1:n.*134-211A>G
NM_001085488.2:c.506-211A>G	NP_001078957.1:n.506-211A>G
NM_001282011.1:c.506-211A>G	NP_001268940.1:n.506-211A>G
NR_104066.1:n.660-211A>G
NR_104071.1:n.611-211A>G
XM_005258812.2:c.506-211A>G	XP_005258869.1:n.506-211A>G
XM_011526850.1:c.506-2971A>G	XP_011525152.1:n.506-2971A>G
XM_011526851.1:c.517-211A>G	XP_011525153.1:n.517-211A>G
XM_011526852.1:c.506-211A>G	XP_011525154.1:n.506-211A>G
XM_011526853.1:c.506-211A>G	XP_011525155.1:n.506-211A>G
XM_011526854.1:c.506-211A>G	XP_011525156.1:n.506-211A>G
XM_011526855.1:c.506-211A>G	XP_011525157.1:n.506-211A>G
XM_011526856.1:c.506-211A>G	XP_011525158.1:n.506-211A>G
XM_011526857.1:c.326-211A>G	XP_011525159.1:n.326-211A>G
XM_005258812.4:c.506-211A>G	XP_005258869.1:n.506-211A>G
XM_011526850.3:c.506-2971A>G	XP_011525152.1:n.506-2971A>G
XM_011526851.3:c.517-211A>G	XP_011525153.1:n.517-211A>G
XM_011526852.3:c.506-211A>G	XP_011525154.1:n.506-211A>G
XM_011526853.2:c.506-211A>G	XP_011525155.1:n.506-211A>G
XM_011526854.3:c.506-211A>G	XP_011525156.1:n.506-211A>G
XM_011526855.3:c.506-211A>G	XP_011525157.1:n.506-211A>G
XM_011526856.3:c.506-211A>G	XP_011525158.1:n.506-211A>G
XM_011526857.2:c.326-211A>G	XP_011525159.1:n.326-211A>G
XM_017026667.2:c.506-211A>G	XP_016882156.1:n.506-211A>G
XM_017026668.1:c.326-211A>G	XP_016882157.1:n.326-211A>G
NM_001085488.3:c.506-211A>G	NP_001078957.1:n.506-211A>G
NM_001282011.2:c.506-211A>G MANE Select	NP_001268940.1:n.506-211A>G
NR_104066.2:n.661-211A>G
NR_104071.2:n.612-211A>G