Canonical Allele Identifier: CA363307843
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs1478537435
gnomAD v3: 6-31354490-G-A
gnomAD v4: 6-31354490-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354490G>A , CM000668.2:g.31354490G>A GRCh38
NC_000006.11:g.31322267G>A , CM000668.1:g.31322267G>A GRCh37
NC_000006.10:g.31430246G>A NCBI36
NG_023187.1:g.7723C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3129C>T
ENST00000481849.6:n.3089C>T
ENST00000497377.6:n.2996C>T
ENST00000640094.2:c.965C>T ENSP00000491275.2:p.Thr322Ile
ENST00000696558.1:c.1151C>T ENSP00000512716.1:n.1151C>T
ENST00000696559.1:c.1082C>T ENSP00000512717.1:p.Thr361Ile
ENST00000696560.1:c.1082C>T ENSP00000512718.1:p.Thr361Ile
ENST00000696561.1:c.1082C>T ENSP00000512719.1:p.Thr361Ile
ENST00000696562.1:c.1082C>T ENSP00000512720.1:p.Thr361Ile
ENST00000412585.7:c.1082C>T MANE Select ENSP00000399168.2:p.Thr361Ile
ENST00000412585.6:c.1082C>T ENSP00000399168.2:p.Thr361Ile
ENST00000481849.5:n.317C>T
ENST00000497377.5:n.481C>T
NM_005514.6:c.1082C>T NP_005505.2:p.Thr361Ile
XM_011514556.1:c.1115C>T XP_011512858.1:p.Thr372Ile
XM_011514557.1:c.965C>T XP_011512859.1:p.Thr322Ile
XR_926175.1:n.1521C>T
NM_005514.7:c.1082C>T NP_005505.2:p.Thr361Ile
NM_005514.8:c.1082C>T MANE Select NP_005505.2:p.Thr361Ile