Canonical Allele Identifier: CA374947261

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630685T>G (hg19) ; chr9:g.127868406T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868406T>G , CM000671.2:g.127868406T>G	GRCh38
NC_000009.11:g.130630685T>G , CM000671.1:g.130630685T>G	GRCh37
NC_000009.10:g.129670506T>G	NCBI36
NG_011792.1:g.14338A>C
NG_011792.2:g.14338A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.931A>C
ENST00000643029.1:c.*2106A>C	ENSP00000496586.1:n.*2106A>C
ENST00000643338.1:c.*1995A>C	ENSP00000495890.1:n.*1995A>C
ENST00000644144.2:c.431A>C MANE Select	ENSP00000494600.1:p.Glu144Ala
ENST00000645007.1:c.*2355A>C	ENSP00000494773.1:n.*2355A>C
ENST00000646171.1:c.*464A>C	ENSP00000495484.1:n.*464A>C
ENST00000223836.10:c.479A>C	ENSP00000223836.10:p.Glu160Ala
ENST00000373156.5:c.431A>C	ENSP00000362249.1:p.Glu144Ala
ENST00000373176.5:c.431A>C	ENSP00000362271.1:p.Glu144Ala
ENST00000413016.5:c.253A>C
ENST00000550143.5:c.211A>C	ENSP00000449130.1:n.211A>C
NM_000476.2:c.431A>C	NP_000467.1:p.Glu144Ala
XM_005251786.2:c.479A>C	XP_005251843.1:p.Glu160Ala
XM_011518348.1:c.431A>C	XP_011516650.1:p.Glu144Ala
XM_011518349.1:c.251A>C	XP_011516651.1:p.Glu84Ala
NM_001318121.1:c.431A>C	NP_001305050.1:p.Glu144Ala
NM_001318122.1:c.479A>C	NP_001305051.1:p.Glu160Ala
XM_017014428.1:c.431A>C	XP_016869917.1:p.Glu144Ala
XM_024447439.1:c.410A>C	XP_024303207.1:p.Glu137Ala
XM_024447440.1:c.251A>C	XP_024303208.1:p.Glu84Ala
NM_001318122.2:c.479A>C	NP_001305051.1:p.Glu160Ala
NM_000476.3:c.431A>C MANE Select	NP_000467.1:p.Glu144Ala
NR_174625.1:n.3750A>C
NR_174626.1:n.3593A>C
NR_174627.1:n.3630A>C
NR_174628.1:n.3008A>C
NR_174629.1:n.2953A>C
NR_174630.1:n.2989A>C
NR_174631.1:n.2934A>C
NR_174632.1:n.3023A>C