Canonical Allele Identifier: CA374947213

Gene: AK1

Linked Data

• gnomAD v4: 9-127868397-T-C
• MyVariant Identifiers: chr9:g.130630676T>C (hg19) ; chr9:g.127868397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868397T>C , CM000671.2:g.127868397T>C	GRCh38
NC_000009.11:g.130630676T>C , CM000671.1:g.130630676T>C	GRCh37
NC_000009.10:g.129670497T>C	NCBI36
NG_011792.1:g.14347A>G
NG_011792.2:g.14347A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.940A>G
ENST00000643029.1:c.*2115A>G	ENSP00000496586.1:n.*2115A>G
ENST00000643338.1:c.*2004A>G	ENSP00000495890.1:n.*2004A>G
ENST00000644144.2:c.440A>G MANE Select	ENSP00000494600.1:p.Lys147Arg
ENST00000645007.1:c.*2364A>G	ENSP00000494773.1:n.*2364A>G
ENST00000646171.1:c.*473A>G	ENSP00000495484.1:n.*473A>G
ENST00000223836.10:c.488A>G	ENSP00000223836.10:p.Lys163Arg
ENST00000373156.5:c.440A>G	ENSP00000362249.1:p.Lys147Arg
ENST00000373176.5:c.440A>G	ENSP00000362271.1:p.Lys147Arg
ENST00000413016.5:c.262A>G
ENST00000550143.5:c.220A>G	ENSP00000449130.1:n.220A>G
NM_000476.2:c.440A>G	NP_000467.1:p.Lys147Arg
XM_005251786.2:c.488A>G	XP_005251843.1:p.Lys163Arg
XM_011518348.1:c.440A>G	XP_011516650.1:p.Lys147Arg
XM_011518349.1:c.260A>G	XP_011516651.1:p.Lys87Arg
NM_001318121.1:c.440A>G	NP_001305050.1:p.Lys147Arg
NM_001318122.1:c.488A>G	NP_001305051.1:p.Lys163Arg
XM_017014428.1:c.440A>G	XP_016869917.1:p.Lys147Arg
XM_024447439.1:c.419A>G	XP_024303207.1:p.Lys140Arg
XM_024447440.1:c.260A>G	XP_024303208.1:p.Lys87Arg
NM_001318122.2:c.488A>G	NP_001305051.1:p.Lys163Arg
NM_000476.3:c.440A>G MANE Select	NP_000467.1:p.Lys147Arg
NR_174625.1:n.3759A>G
NR_174626.1:n.3602A>G
NR_174627.1:n.3639A>G
NR_174628.1:n.3017A>G
NR_174629.1:n.2962A>G
NR_174630.1:n.2998A>G
NR_174631.1:n.2943A>G
NR_174632.1:n.3032A>G