Canonical Allele Identifier: CA566689348
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs1200544607
gnomAD v2: 6-31322758-C-G
gnomAD v3: 6-31354981-C-G
gnomAD v4: 6-31354981-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354981C>G , CM000668.2:g.31354981C>G GRCh38
NC_000006.11:g.31322758C>G , CM000668.1:g.31322758C>G GRCh37
NC_000006.10:g.31430737C>G NCBI36
NG_023187.1:g.7232G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3059+126G>C
ENST00000481849.6:n.2704G>C
ENST00000497377.6:n.2611G>C
ENST00000640094.2:c.896-316G>C ENSP00000491275.2:n.896-316G>C
ENST00000696558.1:c.1081+126G>C ENSP00000512716.1:n.1081+126G>C
ENST00000696559.1:c.1012+126G>C ENSP00000512717.1:n.1012+126G>C
ENST00000696560.1:c.1012+126G>C ENSP00000512718.1:n.1012+126G>C
ENST00000696561.1:c.1012+126G>C ENSP00000512719.1:n.1012+126G>C
ENST00000696562.1:c.1012+126G>C ENSP00000512720.1:n.1012+126G>C
ENST00000412585.7:c.1012+126G>C MANE Select ENSP00000399168.2:n.1012+126G>C
ENST00000640094.1:c.89-316G>C ENSP00000491275.1:n.89-316G>C
ENST00000412585.6:c.1012+126G>C ENSP00000399168.2:n.1012+126G>C
ENST00000497377.5:n.96G>C
NM_005514.6:c.1012+126G>C NP_005505.2:n.1012+126G>C
XM_011514556.1:c.1045+126G>C XP_011512858.1:n.1045+126G>C
XM_011514557.1:c.896-316G>C XP_011512859.1:n.896-316G>C
XR_926175.1:n.1451+126G>C
NM_005514.7:c.1012+126G>C NP_005505.2:n.1012+126G>C
NM_005514.8:c.1012+126G>C MANE Select NP_005505.2:n.1012+126G>C