Canonical Allele Identifier: CA2554364700
Gene: HLA-C HGNC NCBI

Linked Data

gnomAD v4: 6-31268942-C-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31268942C>A , CM000668.2:g.31268942C>A GRCh38
NC_000006.11:g.31236719C>A , CM000668.1:g.31236719C>A GRCh37
NC_000006.10:g.31344698C>A NCBI36
NG_029422.2:g.8190G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376228.10:c.*227G>T MANE Select ENSP00000365402.5:n.*227G>T
ENST00000376228.9:c.*227G>T ENSP00000365402.5:n.*227G>T
ENST00000376237.8:c.*915G>T ENSP00000365412.4:n.*915G>T
ENST00000383329.7:c.*227G>T ENSP00000372819.3:n.*227G>T
ENST00000466892.5:n.561G>T
ENST00000470363.5:n.1086G>T
ENST00000487245.5:n.1687G>T
NM_002117.5:c.*227G>T NP_002108.4:n.*227G>T
NM_002117.6:c.*227G>T MANE Select NP_002108.4:n.*227G>T
Search 100 bp 5'
Search 100 bp 3'