Canonical Allele Identifier: CA136836483
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs1131212
gnomAD v3: 6-31356749-C-A
gnomAD v4: 6-31356749-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31356749C>A , CM000668.2:g.31356749C>A GRCh38
NC_000006.11:g.31324526C>A , CM000668.1:g.31324526C>A GRCh37
NC_000006.10:g.31432505C>A NCBI36
NG_023187.1:g.5464G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.1755G>T
ENST00000481849.6:n.1755G>T
ENST00000497377.6:n.1755G>T
ENST00000640094.2:c.282G>T ENSP00000491275.2:p.Gln94His
ENST00000696558.1:c.282G>T ENSP00000512716.1:p.Gln94His
ENST00000696559.1:c.282G>T ENSP00000512717.1:p.Gln94His
ENST00000696560.1:c.282G>T ENSP00000512718.1:p.Gln94His
ENST00000696561.1:c.282G>T ENSP00000512719.1:p.Gln94His
ENST00000696562.1:c.282G>T ENSP00000512720.1:p.Gln94His
ENST00000412585.7:c.282G>T MANE Select ENSP00000399168.2:p.Gln94His
ENST00000412585.6:c.282G>T ENSP00000399168.2:p.Gln94His
ENST00000434333.1:c.315G>T ENSP00000405931.1:p.Gln105His
ENST00000474381.1:n.157G>T
ENST00000498007.1:n.303G>T
ENST00000603274.1:n.103C>A
NM_005514.6:c.282G>T NP_005505.2:p.Gln94His
XM_011514556.1:c.315G>T XP_011512858.1:p.Gln105His
XM_011514557.1:c.282G>T XP_011512859.1:p.Gln94His
XR_926175.1:n.292G>T
NM_005514.7:c.282G>T NP_005505.2:p.Gln94His
NM_005514.8:c.282G>T MANE Select NP_005505.2:p.Gln94His