Canonical Allele Identifier: CA136832954
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs7769258
gnomAD v3: 6-31355522-C-A
gnomAD v4: 6-31355522-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355522C>A , CM000668.2:g.31355522C>A GRCh38
NC_000006.11:g.31323299C>A , CM000668.1:g.31323299C>A GRCh37
NC_000006.10:g.31431278C>A NCBI36
NG_023187.1:g.6691G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.2737G>T
ENST00000481849.6:n.2163G>T
ENST00000497377.6:n.2163G>T
ENST00000640094.2:c.690G>T ENSP00000491275.2:p.Leu230=
ENST00000696558.1:c.759G>T ENSP00000512716.1:n.759G>T
ENST00000696559.1:c.690G>T ENSP00000512717.1:p.Leu230=
ENST00000696560.1:c.690G>T ENSP00000512718.1:p.Leu230=
ENST00000696561.1:c.690G>T ENSP00000512719.1:p.Leu230=
ENST00000696562.1:c.690G>T ENSP00000512720.1:p.Leu230=
ENST00000412585.7:c.690G>T MANE Select ENSP00000399168.2:p.Leu230=
ENST00000412585.6:c.690G>T ENSP00000399168.2:p.Leu230=
ENST00000434333.1:c.723G>T ENSP00000405931.1:p.Leu241=
ENST00000463574.1:n.281G>T
ENST00000474381.1:n.1139G>T
ENST00000498007.1:n.956G>T
NM_005514.6:c.690G>T NP_005505.2:p.Leu230=
XM_011514556.1:c.723G>T XP_011512858.1:p.Leu241=
XM_011514557.1:c.690G>T XP_011512859.1:p.Leu230=
XR_926175.1:n.1129G>T
NM_005514.7:c.690G>T NP_005505.2:p.Leu230=
NM_005514.8:c.690G>T MANE Select NP_005505.2:p.Leu230=