Canonical Allele Identifier: CA136866523
Gene: HLA-C HGNC NCBI

Linked Data

dbSNP Id: rs41543517
gnomAD v2: 6-31238906-C-T
gnomAD v3: 6-31271129-C-T
gnomAD v4: 6-31271129-C-T
MyVariant Identifiers: chr6:g.31238906C>T (hg19) chr6:g.31238906_31238907delinsTA (hg19) chr6:g.31271129C>T (hg38) chr6:g.31271129_31271130delinsTA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31271129C>T , CM000668.2:g.31271129C>T GRCh38
NC_000006.11:g.31238906C>T , CM000668.1:g.31238906C>T GRCh37
NC_000006.10:g.31346885C>T NCBI36
NG_029422.2:g.6003G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.563G>A MANE Select ENSP00000365402.5:p.Cys188Tyr
ENST00000376228.9:c.563G>A ENSP00000365402.5:p.Cys188Tyr
ENST00000376237.8:c.*150G>A ENSP00000365412.4:n.*150G>A
ENST00000383329.7:c.563G>A ENSP00000372819.3:p.Cys188Tyr
ENST00000415537.1:c.561G>A
ENST00000484378.1:n.832G>A
ENST00000487245.5:n.922G>A
ENST00000495835.1:n.752G>A
NM_002117.5:c.563G>A NP_002108.4:p.Cys188Tyr
NM_002117.6:c.563G>A MANE Select NP_002108.4:p.Cys188Tyr
Search 100 bp 5'
Search 100 bp 3'