Canonical Allele Identifier: CA363309005
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v4: 6-31355188-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355188T>C , CM000668.2:g.31355188T>C GRCh38
NC_000006.11:g.31322965T>C , CM000668.1:g.31322965T>C GRCh37
NC_000006.10:g.31430944T>C NCBI36
NG_023187.1:g.7025A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.2978A>G
ENST00000481849.6:n.2497A>G
ENST00000497377.6:n.2404A>G
ENST00000640094.2:c.895+129A>G ENSP00000491275.2:n.895+129A>G
ENST00000696558.1:c.1000A>G ENSP00000512716.1:n.1000A>G
ENST00000696559.1:c.931A>G ENSP00000512717.1:p.Ile311Val
ENST00000696560.1:c.931A>G ENSP00000512718.1:p.Ile311Val
ENST00000696561.1:c.931A>G ENSP00000512719.1:p.Ile311Val
ENST00000696562.1:c.931A>G ENSP00000512720.1:p.Ile311Val
ENST00000412585.7:c.931A>G MANE Select ENSP00000399168.2:p.Ile311Val
ENST00000640094.1:c.88+129A>G ENSP00000491275.1:n.88+129A>G
ENST00000412585.6:c.931A>G ENSP00000399168.2:p.Ile311Val
ENST00000463574.1:n.522A>G
NM_005514.6:c.931A>G NP_005505.2:p.Ile311Val
XM_011514556.1:c.964A>G XP_011512858.1:p.Ile322Val
XM_011514557.1:c.895+129A>G XP_011512859.1:n.895+129A>G
XR_926175.1:n.1370A>G
NM_005514.7:c.931A>G NP_005505.2:p.Ile311Val
NM_005514.8:c.931A>G MANE Select NP_005505.2:p.Ile311Val