Canonical Allele Identifier: CA363322775
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31270467-A-C
gnomAD v4: 6-31270467-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31270467A>C , CM000668.2:g.31270467A>C GRCh38
NC_000006.11:g.31238244A>C , CM000668.1:g.31238244A>C GRCh37
NC_000006.10:g.31346223A>C NCBI36
NG_029422.2:g.6665T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.638T>G MANE Select ENSP00000365402.5:p.Val213Gly
ENST00000376228.9:c.638T>G ENSP00000365402.5:p.Val213Gly
ENST00000376237.8:c.*225T>G ENSP00000365412.4:n.*225T>G
ENST00000383329.7:c.638T>G ENSP00000372819.3:p.Val213Gly
ENST00000415537.1:c.636T>G
ENST00000487245.5:n.997T>G
ENST00000495835.1:n.827T>G
NM_002117.5:c.638T>G NP_002108.4:p.Val213Gly
NM_002117.6:c.638T>G MANE Select NP_002108.4:p.Val213Gly