Canonical Allele Identifier: CA363307870
Gene: HLA-B HGNC NCBI

Linked Data

gnomAD v4: 6-31354494-G-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354494G>T , CM000668.2:g.31354494G>T GRCh38
NC_000006.11:g.31322271G>T , CM000668.1:g.31322271G>T GRCh37
NC_000006.10:g.31430250G>T NCBI36
NG_023187.1:g.7719C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3125C>A
ENST00000481849.6:n.3085C>A
ENST00000497377.6:n.2992C>A
ENST00000640094.2:c.961C>A ENSP00000491275.2:p.Leu321Ile
ENST00000696558.1:c.1147C>A ENSP00000512716.1:n.1147C>A
ENST00000696559.1:c.1078C>A ENSP00000512717.1:p.Leu360Ile
ENST00000696560.1:c.1078C>A ENSP00000512718.1:p.Leu360Ile
ENST00000696561.1:c.1078C>A ENSP00000512719.1:p.Leu360Ile
ENST00000696562.1:c.1078C>A ENSP00000512720.1:p.Leu360Ile
ENST00000412585.7:c.1078C>A MANE Select ENSP00000399168.2:p.Leu360Ile
ENST00000412585.6:c.1078C>A ENSP00000399168.2:p.Leu360Ile
ENST00000481849.5:n.313C>A
ENST00000497377.5:n.477C>A
NM_005514.6:c.1078C>A NP_005505.2:p.Leu360Ile
XM_011514556.1:c.1111C>A XP_011512858.1:p.Leu371Ile
XM_011514557.1:c.961C>A XP_011512859.1:p.Leu321Ile
XR_926175.1:n.1517C>A
NM_005514.7:c.1078C>A NP_005505.2:p.Leu360Ile
NM_005514.8:c.1078C>A MANE Select NP_005505.2:p.Leu360Ile