Canonical Allele Identifier: CA136862073
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41550315
gnomAD v2: 6-31237264-A-T
gnomAD v3: 6-31269487-A-T
gnomAD v4: 6-31269487-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31269487A>T , CM000668.2:g.31269487A>T GRCh38
NC_000006.11:g.31237264A>T , CM000668.1:g.31237264A>T GRCh37
NC_000006.10:g.31345243A>T NCBI36
NG_029422.2:g.7645T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.1048+6T>A MANE Select ENSP00000365402.5:n.1048+6T>A
ENST00000376228.9:c.1048+6T>A ENSP00000365402.5:n.1048+6T>A
ENST00000376237.8:c.*635+6T>A ENSP00000365412.4:n.*635+6T>A
ENST00000383329.7:c.1066+6T>A ENSP00000372819.3:n.1066+6T>A
ENST00000466892.5:n.180T>A
ENST00000470363.5:n.806+6T>A
ENST00000487245.5:n.1407+6T>A
NM_002117.5:c.1048+6T>A NP_002108.4:n.1048+6T>A
NM_002117.6:c.1048+6T>A MANE Select NP_002108.4:n.1048+6T>A