Canonical Allele Identifier: CA3711180
Gene: HLA-B HGNC NCBI

Linked Data

dbSNP Id: rs139817031
gnomAD v2: 6-31322300-C-T
gnomAD v3: 6-31354523-C-T
gnomAD v4: 6-31354523-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31354523C>T , CM000668.2:g.31354523C>T GRCh38
NC_000006.11:g.31322300C>T , CM000668.1:g.31322300C>T GRCh37
NC_000006.10:g.31430279C>T NCBI36
NG_023187.1:g.7690G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000474381.2:n.3096G>A
ENST00000481849.6:n.3056G>A
ENST00000497377.6:n.2963G>A
ENST00000640094.2:c.932G>A ENSP00000491275.2:p.Ser311Asn
ENST00000696558.1:c.1118G>A ENSP00000512716.1:n.1118G>A
ENST00000696559.1:c.1049G>A ENSP00000512717.1:p.Ser350Asn
ENST00000696560.1:c.1049G>A ENSP00000512718.1:p.Ser350Asn
ENST00000696561.1:c.1049G>A ENSP00000512719.1:p.Ser350Asn
ENST00000696562.1:c.1049G>A ENSP00000512720.1:p.Ser350Asn
ENST00000412585.7:c.1049G>A MANE Select ENSP00000399168.2:p.Ser350Asn
ENST00000640094.1:c.125G>A ENSP00000491275.1:p.Ser42Asn
ENST00000412585.6:c.1049G>A ENSP00000399168.2:p.Ser350Asn
ENST00000481849.5:n.284G>A
ENST00000497377.5:n.448G>A
NM_005514.6:c.1049G>A NP_005505.2:p.Ser350Asn
XM_011514556.1:c.1082G>A XP_011512858.1:p.Ser361Asn
XM_011514557.1:c.932G>A XP_011512859.1:p.Ser311Asn
XR_926175.1:n.1488G>A
NM_005514.7:c.1049G>A NP_005505.2:p.Ser350Asn
NM_005514.8:c.1049G>A MANE Select NP_005505.2:p.Ser350Asn