Canonical Allele Identifier: CA128014
Gene: AK1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 18265
ClinVar RCV Id: RCV000019927
dbSNP Id: rs137853203

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868346T>C , CM000671.2:g.127868346T>C GRCh38
NC_000009.10:g.129670446T>C NCBI36
NC_000009.11:g.130630625T>C , CM000671.1:g.130630625T>C GRCh37
NG_011792.1:g.14398A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000223836.10:c.539A>G ENSP00000223836.10:p.Tyr180Cys
ENST00000373156.5:c.491A>G ENSP00000362249.1:p.Tyr164Cys
ENST00000373176.5:c.491A>G ENSP00000362271.1:p.Tyr164Cys
ENST00000413016.5:n.313A>G
ENST00000550143.5:n.271A>G ENSP00000449130.1:p.=
NM_000476.2:c.491A>G VV NP_000467.1:p.Tyr164Cys
XM_005251786.2:c.539A>G XP_005251843.1:p.Tyr180Cys
XM_011518348.1:c.491A>G XP_011516650.1:p.Tyr164Cys
XM_011518349.1:c.311A>G XP_011516651.1:p.Tyr104Cys