Canonical Allele Identifier: CA449610308
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270391-T-G
gnomAD v4: 6-31270391-T-G
MyVariant Identifiers: chr6:g.31238168T>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270391T>G , CM000668.2:g.31270391T>G GRCh38
NC_000006.11:g.31238168T>G , CM000668.1:g.31238168T>G GRCh37
NC_000006.10:g.31346147T>G NCBI36
NG_029422.2:g.6741A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.714A>C MANE Select ENSP00000365402.5:p.Thr238=
ENST00000376228.9:c.714A>C ENSP00000365402.5:p.Thr238=
ENST00000376237.8:c.*301A>C ENSP00000365412.4:n.*301A>C
ENST00000383329.7:c.714A>C ENSP00000372819.3:p.Thr238=
ENST00000415537.1:c.664+48A>C
ENST00000470363.5:n.32A>C
ENST00000487245.5:n.1073A>C
ENST00000495835.1:n.903A>C
NM_002117.5:c.714A>C NP_002108.4:p.Thr238=
NM_002117.6:c.714A>C MANE Select NP_002108.4:p.Thr238=