Canonical Allele Identifier: CA128011
Gene: AK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 18263
ClinVar RCV Id: RCV000019925
dbSNP Id: rs104894101

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868455G>A , CM000671.2:g.127868455G>A GRCh38
NC_000009.11:g.130630734G>A , CM000671.1:g.130630734G>A GRCh37
NC_000009.10:g.129670555G>A NCBI36
NG_011792.1:g.14289C>T
NG_011792.2:g.14289C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000476274.7:n.882C>T
ENST00000643029.1:c.*2057C>T ENSP00000496586.1:n.*2057C>T
ENST00000643338.1:c.*1946C>T ENSP00000495890.1:n.*1946C>T
ENST00000644144.2:c.382C>T MANE Select ENSP00000494600.1:p.Arg128Trp
ENST00000645007.1:c.*2306C>T ENSP00000494773.1:n.*2306C>T
ENST00000646171.1:c.*415C>T ENSP00000495484.1:n.*415C>T
ENST00000223836.10:c.430C>T ENSP00000223836.10:p.Arg144Trp
ENST00000373156.5:c.382C>T ENSP00000362249.1:p.Arg128Trp
ENST00000373176.5:c.382C>T ENSP00000362271.1:p.Arg128Trp
ENST00000413016.5:c.204C>T
ENST00000550143.5:c.162C>T ENSP00000449130.1:n.162C>T
NM_000476.2:c.382C>T NP_000467.1:p.Arg128Trp
XM_005251786.2:c.430C>T XP_005251843.1:p.Arg144Trp
XM_011518348.1:c.382C>T XP_011516650.1:p.Arg128Trp
XM_011518349.1:c.202C>T XP_011516651.1:p.Arg68Trp
NM_001318121.1:c.382C>T NP_001305050.1:p.Arg128Trp
NM_001318122.1:c.430C>T NP_001305051.1:p.Arg144Trp
XM_017014428.1:c.382C>T XP_016869917.1:p.Arg128Trp
XM_024447439.1:c.361C>T XP_024303207.1:p.Arg121Trp
XM_024447440.1:c.202C>T XP_024303208.1:p.Arg68Trp
NM_001318122.2:c.430C>T NP_001305051.1:p.Arg144Trp
NM_000476.3:c.382C>T MANE Select NP_000467.1:p.Arg128Trp
NR_174625.1:n.3701C>T
NR_174626.1:n.3544C>T
NR_174627.1:n.3581C>T
NR_174628.1:n.2959C>T
NR_174629.1:n.2904C>T
NR_174630.1:n.2940C>T
NR_174631.1:n.2885C>T
NR_174632.1:n.2974C>T