Canonical Allele Identifier: CA467224152
Gene: AK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130630702A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868423A>C , CM000671.2:g.127868423A>C GRCh38
NC_000009.11:g.130630702A>C , CM000671.1:g.130630702A>C GRCh37
NC_000009.10:g.129670523A>C NCBI36
NG_011792.1:g.14321T>G
NG_011792.2:g.14321T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476274.7:n.914T>G
ENST00000643029.1:c.*2089T>G ENSP00000496586.1:n.*2089T>G
ENST00000643338.1:c.*1978T>G ENSP00000495890.1:n.*1978T>G
ENST00000644144.2:c.414T>G MANE Select ENSP00000494600.1:p.Arg138=
ENST00000645007.1:c.*2338T>G ENSP00000494773.1:n.*2338T>G
ENST00000646171.1:c.*447T>G ENSP00000495484.1:n.*447T>G
ENST00000223836.10:c.462T>G ENSP00000223836.10:p.Arg154=
ENST00000373156.5:c.414T>G ENSP00000362249.1:p.Arg138=
ENST00000373176.5:c.414T>G ENSP00000362271.1:p.Arg138=
ENST00000413016.5:c.236T>G
ENST00000550143.5:c.194T>G ENSP00000449130.1:n.194T>G
NM_000476.2:c.414T>G NP_000467.1:p.Arg138=
XM_005251786.2:c.462T>G XP_005251843.1:p.Arg154=
XM_011518348.1:c.414T>G XP_011516650.1:p.Arg138=
XM_011518349.1:c.234T>G XP_011516651.1:p.Arg78=
NM_001318121.1:c.414T>G NP_001305050.1:p.Arg138=
NM_001318122.1:c.462T>G NP_001305051.1:p.Arg154=
XM_017014428.1:c.414T>G XP_016869917.1:p.Arg138=
XM_024447439.1:c.393T>G XP_024303207.1:p.Arg131=
XM_024447440.1:c.234T>G XP_024303208.1:p.Arg78=
NM_001318122.2:c.462T>G NP_001305051.1:p.Arg154=
NM_000476.3:c.414T>G MANE Select NP_000467.1:p.Arg138=
NR_174625.1:n.3733T>G
NR_174626.1:n.3576T>G
NR_174627.1:n.3613T>G
NR_174628.1:n.2991T>G
NR_174629.1:n.2936T>G
NR_174630.1:n.2972T>G
NR_174631.1:n.2917T>G
NR_174632.1:n.3006T>G