Canonical Allele Identifier: CA363308007
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs1247136475
gnomAD v2: 6-31322297-T-C
gnomAD v3: 6-31354520-T-C
gnomAD v4: 6-31354520-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354520T>C , CM000668.2:g.31354520T>C GRCh38
NC_000006.11:g.31322297T>C , CM000668.1:g.31322297T>C GRCh37
NC_000006.10:g.31430276T>C NCBI36
NG_023187.1:g.7693A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3099A>G
ENST00000481849.6:n.3059A>G
ENST00000497377.6:n.2966A>G
ENST00000640094.2:c.935A>G ENSP00000491275.2:p.Asp312Gly
ENST00000696558.1:c.1121A>G ENSP00000512716.1:n.1121A>G
ENST00000696559.1:c.1052A>G ENSP00000512717.1:p.Asp351Gly
ENST00000696560.1:c.1052A>G ENSP00000512718.1:p.Asp351Gly
ENST00000696561.1:c.1052A>G ENSP00000512719.1:p.Asp351Gly
ENST00000696562.1:c.1052A>G ENSP00000512720.1:p.Asp351Gly
ENST00000412585.7:c.1052A>G MANE Select ENSP00000399168.2:p.Asp351Gly
ENST00000640094.1:c.128A>G ENSP00000491275.1:p.Asp43Gly
ENST00000412585.6:c.1052A>G ENSP00000399168.2:p.Asp351Gly
ENST00000481849.5:n.287A>G
ENST00000497377.5:n.451A>G
NM_005514.6:c.1052A>G NP_005505.2:p.Asp351Gly
XM_011514556.1:c.1085A>G XP_011512858.1:p.Asp362Gly
XM_011514557.1:c.935A>G XP_011512859.1:p.Asp312Gly
XR_926175.1:n.1491A>G
NM_005514.7:c.1052A>G NP_005505.2:p.Asp351Gly
NM_005514.8:c.1052A>G MANE Select NP_005505.2:p.Asp351Gly