Canonical Allele Identifier: CA374947426

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630710T>G (hg19) ; chr9:g.127868431T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868431T>G , CM000671.2:g.127868431T>G	GRCh38
NC_000009.11:g.130630710T>G , CM000671.1:g.130630710T>G	GRCh37
NC_000009.10:g.129670531T>G	NCBI36
NG_011792.1:g.14313A>C
NG_011792.2:g.14313A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.906A>C
ENST00000643029.1:c.*2081A>C	ENSP00000496586.1:n.*2081A>C
ENST00000643338.1:c.*1970A>C	ENSP00000495890.1:n.*1970A>C
ENST00000644144.2:c.406A>C MANE Select	ENSP00000494600.1:p.Ser136Arg
ENST00000645007.1:c.*2330A>C	ENSP00000494773.1:n.*2330A>C
ENST00000646171.1:c.*439A>C	ENSP00000495484.1:n.*439A>C
ENST00000223836.10:c.454A>C	ENSP00000223836.10:p.Ser152Arg
ENST00000373156.5:c.406A>C	ENSP00000362249.1:p.Ser136Arg
ENST00000373176.5:c.406A>C	ENSP00000362271.1:p.Ser136Arg
ENST00000413016.5:c.228A>C
ENST00000550143.5:c.186A>C	ENSP00000449130.1:n.186A>C
NM_000476.2:c.406A>C	NP_000467.1:p.Ser136Arg
XM_005251786.2:c.454A>C	XP_005251843.1:p.Ser152Arg
XM_011518348.1:c.406A>C	XP_011516650.1:p.Ser136Arg
XM_011518349.1:c.226A>C	XP_011516651.1:p.Ser76Arg
NM_001318121.1:c.406A>C	NP_001305050.1:p.Ser136Arg
NM_001318122.1:c.454A>C	NP_001305051.1:p.Ser152Arg
XM_017014428.1:c.406A>C	XP_016869917.1:p.Ser136Arg
XM_024447439.1:c.385A>C	XP_024303207.1:p.Ser129Arg
XM_024447440.1:c.226A>C	XP_024303208.1:p.Ser76Arg
NM_001318122.2:c.454A>C	NP_001305051.1:p.Ser152Arg
NM_000476.3:c.406A>C MANE Select	NP_000467.1:p.Ser136Arg
NR_174625.1:n.3725A>C
NR_174626.1:n.3568A>C
NR_174627.1:n.3605A>C
NR_174628.1:n.2983A>C
NR_174629.1:n.2928A>C
NR_174630.1:n.2964A>C
NR_174631.1:n.2909A>C
NR_174632.1:n.2998A>C