Canonical Allele Identifier: CA136832423
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs1051488
gnomAD v3: 6-31355134-C-G
gnomAD v4: 6-31355134-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355134C>G , CM000668.2:g.31355134C>G GRCh38
NC_000006.11:g.31322911C>G , CM000668.1:g.31322911C>G GRCh37
NC_000006.10:g.31430890C>G NCBI36
NG_023187.1:g.7079G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000474381.2:n.3032G>C
ENST00000481849.6:n.2551G>C
ENST00000497377.6:n.2458G>C
ENST00000640094.2:c.895+183G>C ENSP00000491275.2:n.895+183G>C
ENST00000696558.1:c.1054G>C ENSP00000512716.1:n.1054G>C
ENST00000696559.1:c.985G>C ENSP00000512717.1:p.Ala329Pro
ENST00000696560.1:c.985G>C ENSP00000512718.1:p.Ala329Pro
ENST00000696561.1:c.985G>C ENSP00000512719.1:p.Ala329Pro
ENST00000696562.1:c.985G>C ENSP00000512720.1:p.Ala329Pro
ENST00000412585.7:c.985G>C MANE Select ENSP00000399168.2:p.Ala329Pro
ENST00000640094.1:c.88+183G>C ENSP00000491275.1:n.88+183G>C
ENST00000412585.6:c.985G>C ENSP00000399168.2:p.Ala329Pro
ENST00000463574.1:n.576G>C
NM_005514.6:c.985G>C NP_005505.2:p.Ala329Pro
XM_011514556.1:c.1018G>C XP_011512858.1:p.Ala340Pro
XM_011514557.1:c.895+183G>C XP_011512859.1:n.895+183G>C
XR_926175.1:n.1424G>C
NM_005514.7:c.985G>C NP_005505.2:p.Ala329Pro
NM_005514.8:c.985G>C MANE Select NP_005505.2:p.Ala329Pro