Canonical Allele Identifier: CA1087466389
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs2113739791
gnomAD v3: 6-31355806-T-C
gnomAD v4: 6-31355806-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31355806T>C , CM000668.2:g.31355806T>C GRCh38
NC_000006.11:g.31323583T>C , CM000668.1:g.31323583T>C GRCh37
NC_000006.10:g.31431562T>C NCBI36
NG_023187.1:g.6407A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.2453A>G
ENST00000481849.6:n.2093-214A>G
ENST00000497377.6:n.2093-214A>G
ENST00000640094.2:c.620-214A>G ENSP00000491275.2:n.620-214A>G
ENST00000696558.1:c.620A>G ENSP00000512716.1:p.Asp207Gly
ENST00000696559.1:c.620-214A>G ENSP00000512717.1:n.620-214A>G
ENST00000696560.1:c.620-214A>G ENSP00000512718.1:n.620-214A>G
ENST00000696561.1:c.620-214A>G ENSP00000512719.1:n.620-214A>G
ENST00000696562.1:c.620-214A>G ENSP00000512720.1:n.620-214A>G
ENST00000412585.7:c.620-214A>G MANE Select ENSP00000399168.2:n.620-214A>G
ENST00000412585.6:c.620-214A>G ENSP00000399168.2:n.620-214A>G
ENST00000434333.1:c.653-214A>G ENSP00000405931.1:n.653-214A>G
ENST00000474381.1:n.855A>G
ENST00000498007.1:n.886-214A>G
NM_005514.6:c.620-214A>G NP_005505.2:n.620-214A>G
XM_011514556.1:c.653-214A>G XP_011512858.1:n.653-214A>G
XM_011514557.1:c.620-214A>G XP_011512859.1:n.620-214A>G
XR_926175.1:n.990A>G
NM_005514.7:c.620-214A>G NP_005505.2:n.620-214A>G
NM_005514.8:c.620-214A>G MANE Select NP_005505.2:n.620-214A>G