Canonical Allele Identifier: CA467224671

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630786T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868507T>G , CM000671.2:g.127868507T>G	GRCh38
NC_000009.11:g.130630786T>G , CM000671.1:g.130630786T>G	GRCh37
NC_000009.10:g.129670607T>G	NCBI36
NG_011792.1:g.14237A>C
NG_011792.2:g.14237A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.830A>C
ENST00000643029.1:c.*2005A>C	ENSP00000496586.1:n.*2005A>C
ENST00000643338.1:c.*1894A>C	ENSP00000495890.1:n.*1894A>C
ENST00000644144.2:c.330A>C MANE Select	ENSP00000494600.1:p.Gly110=
ENST00000645007.1:c.*2254A>C	ENSP00000494773.1:n.*2254A>C
ENST00000646171.1:c.*363A>C	ENSP00000495484.1:n.*363A>C
ENST00000223836.10:c.378A>C	ENSP00000223836.10:p.Gly126=
ENST00000373156.5:c.330A>C	ENSP00000362249.1:p.Gly110=
ENST00000373176.5:c.330A>C	ENSP00000362271.1:p.Gly110=
ENST00000413016.5:c.152A>C
ENST00000550143.5:c.142-32A>C	ENSP00000449130.1:n.142-32A>C
ENST00000550992.1:c.*350A>C	ENSP00000448741.1:n.*350A>C
NM_000476.2:c.330A>C	NP_000467.1:p.Gly110=
XM_005251786.2:c.378A>C	XP_005251843.1:p.Gly126=
XM_011518348.1:c.330A>C	XP_011516650.1:p.Gly110=
XM_011518349.1:c.150A>C	XP_011516651.1:p.Gly50=
NM_001318121.1:c.330A>C	NP_001305050.1:p.Gly110=
NM_001318122.1:c.378A>C	NP_001305051.1:p.Gly126=
XM_017014428.1:c.330A>C	XP_016869917.1:p.Gly110=
XM_024447439.1:c.309A>C	XP_024303207.1:p.Gly103=
XM_024447440.1:c.150A>C	XP_024303208.1:p.Gly50=
NM_001318122.2:c.378A>C	NP_001305051.1:p.Gly126=
NM_000476.3:c.330A>C MANE Select	NP_000467.1:p.Gly110=
NR_174625.1:n.3649A>C
NR_174626.1:n.3524-32A>C
NR_174627.1:n.3529A>C
NR_174628.1:n.2907A>C
NR_174629.1:n.2852A>C
NR_174630.1:n.2888A>C
NR_174631.1:n.2833A>C
NR_174632.1:n.2922A>C