Canonical Allele Identifier: CA363310912
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v4: 6-31355473-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355473C>A , CM000668.2:g.31355473C>A GRCh38
NC_000006.11:g.31323250C>A , CM000668.1:g.31323250C>A GRCh37
NC_000006.10:g.31431229C>A NCBI36
NG_023187.1:g.6740G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000474381.2:n.2786G>T
ENST00000481849.6:n.2212G>T
ENST00000497377.6:n.2212G>T
ENST00000640094.2:c.739G>T ENSP00000491275.2:p.Asp247Tyr
ENST00000696558.1:c.808G>T ENSP00000512716.1:n.808G>T
ENST00000696559.1:c.739G>T ENSP00000512717.1:p.Asp247Tyr
ENST00000696560.1:c.739G>T ENSP00000512718.1:p.Asp247Tyr
ENST00000696561.1:c.739G>T ENSP00000512719.1:p.Asp247Tyr
ENST00000696562.1:c.739G>T ENSP00000512720.1:p.Asp247Tyr
ENST00000412585.7:c.739G>T MANE Select ENSP00000399168.2:p.Asp247Tyr
ENST00000412585.6:c.739G>T ENSP00000399168.2:p.Asp247Tyr
ENST00000463574.1:n.330G>T
ENST00000498007.1:n.1005G>T
NM_005514.6:c.739G>T NP_005505.2:p.Asp247Tyr
XM_011514556.1:c.772G>T XP_011512858.1:p.Asp258Tyr
XM_011514557.1:c.739G>T XP_011512859.1:p.Asp247Tyr
XR_926175.1:n.1178G>T
NM_005514.7:c.739G>T NP_005505.2:p.Asp247Tyr
NM_005514.8:c.739G>T MANE Select NP_005505.2:p.Asp247Tyr