Canonical Allele Identifier: CA449790148
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31271085-G-A
MyVariant Identifiers: chr6:g.31238862G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271085G>A , CM000668.2:g.31271085G>A GRCh38
NC_000006.11:g.31238862G>A , CM000668.1:g.31238862G>A GRCh37
NC_000006.10:g.31346841G>A NCBI36
NG_029422.2:g.6047C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.607C>T MANE Select ENSP00000365402.5:p.Leu203=
ENST00000376228.9:c.607C>T ENSP00000365402.5:p.Leu203=
ENST00000376237.8:c.*194C>T ENSP00000365412.4:n.*194C>T
ENST00000383329.7:c.607C>T ENSP00000372819.3:p.Leu203=
ENST00000415537.1:c.605C>T
ENST00000487245.5:n.966C>T
ENST00000495835.1:n.796C>T
NM_002117.5:c.607C>T NP_002108.4:p.Leu203=
NM_002117.6:c.607C>T MANE Select NP_002108.4:p.Leu203=