Canonical Allele Identifier: CA449790505
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v3: 6-31271293-G-C
gnomAD v4: 6-31271293-G-C
MyVariant Identifiers: chr6:g.31239070G>C (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271293G>C , CM000668.2:g.31271293G>C GRCh38
NC_000006.11:g.31239070G>C , CM000668.1:g.31239070G>C GRCh37
NC_000006.10:g.31347049G>C NCBI36
NG_029422.2:g.5839C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000376228.10:c.399C>G MANE Select ENSP00000365402.5:p.Leu133=
ENST00000376228.9:c.399C>G ENSP00000365402.5:p.Leu133=
ENST00000376237.8:c.382C>G ENSP00000365412.4:p.Pro128Ala
ENST00000383329.7:c.399C>G ENSP00000372819.3:p.Leu133=
ENST00000415537.1:c.397C>G
ENST00000484378.1:n.668C>G
ENST00000487245.5:n.758C>G
ENST00000495835.1:n.588C>G
NM_002117.5:c.399C>G NP_002108.4:p.Leu133=
NM_002117.6:c.399C>G MANE Select NP_002108.4:p.Leu133=
Search 100 bp 5'
Search 100 bp 3'