Canonical Allele Identifier: CA374947370
Gene: AK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2522727
ClinVar RCV Id: RCV004297842
dbSNP Id: rs1443602211

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868425G>A , CM000671.2:g.127868425G>A GRCh38
NC_000009.11:g.130630704G>A , CM000671.1:g.130630704G>A GRCh37
NC_000009.10:g.129670525G>A NCBI36
NG_011792.1:g.14319C>T
NG_011792.2:g.14319C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476274.7:n.912C>T
ENST00000643029.1:c.*2087C>T ENSP00000496586.1:n.*2087C>T
ENST00000643338.1:c.*1976C>T ENSP00000495890.1:n.*1976C>T
ENST00000644144.2:c.412C>T MANE Select ENSP00000494600.1:p.Arg138Cys
ENST00000645007.1:c.*2336C>T ENSP00000494773.1:n.*2336C>T
ENST00000646171.1:c.*445C>T ENSP00000495484.1:n.*445C>T
ENST00000223836.10:c.460C>T ENSP00000223836.10:p.Arg154Cys
ENST00000373156.5:c.412C>T ENSP00000362249.1:p.Arg138Cys
ENST00000373176.5:c.412C>T ENSP00000362271.1:p.Arg138Cys
ENST00000413016.5:c.234C>T
ENST00000550143.5:c.192C>T ENSP00000449130.1:n.192C>T
NM_000476.2:c.412C>T NP_000467.1:p.Arg138Cys
XM_005251786.2:c.460C>T XP_005251843.1:p.Arg154Cys
XM_011518348.1:c.412C>T XP_011516650.1:p.Arg138Cys
XM_011518349.1:c.232C>T XP_011516651.1:p.Arg78Cys
NM_001318121.1:c.412C>T NP_001305050.1:p.Arg138Cys
NM_001318122.1:c.460C>T NP_001305051.1:p.Arg154Cys
XM_017014428.1:c.412C>T XP_016869917.1:p.Arg138Cys
XM_024447439.1:c.391C>T XP_024303207.1:p.Arg131Cys
XM_024447440.1:c.232C>T XP_024303208.1:p.Arg78Cys
NM_001318122.2:c.460C>T NP_001305051.1:p.Arg154Cys
NM_000476.3:c.412C>T MANE Select NP_000467.1:p.Arg138Cys
NR_174625.1:n.3731C>T
NR_174626.1:n.3574C>T
NR_174627.1:n.3611C>T
NR_174628.1:n.2989C>T
NR_174629.1:n.2934C>T
NR_174630.1:n.2970C>T
NR_174631.1:n.2915C>T
NR_174632.1:n.3004C>T