Canonical Allele Identifier: CA363326328
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31271249-A-C
gnomAD v4: 6-31271249-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271249A>C , CM000668.2:g.31271249A>C GRCh38
NC_000006.11:g.31239026A>C , CM000668.1:g.31239026A>C GRCh37
NC_000006.10:g.31347005A>C NCBI36
NG_029422.2:g.5883T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.443T>G MANE Select ENSP00000365402.5:p.Ile148Ser
ENST00000376228.9:c.443T>G ENSP00000365402.5:p.Ile148Ser
ENST00000376237.8:c.*30T>G ENSP00000365412.4:n.*30T>G
ENST00000383329.7:c.443T>G ENSP00000372819.3:p.Ile148Ser
ENST00000415537.1:c.441T>G
ENST00000484378.1:n.712T>G
ENST00000487245.5:n.802T>G
ENST00000495835.1:n.632T>G
NM_002117.5:c.443T>G NP_002108.4:p.Ile148Ser
NM_002117.6:c.443T>G MANE Select NP_002108.4:p.Ile148Ser