Canonical Allele Identifier: CA374946978

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630643T>G (hg19) ; chr9:g.127868364T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868364T>G , CM000671.2:g.127868364T>G	GRCh38
NC_000009.11:g.130630643T>G , CM000671.1:g.130630643T>G	GRCh37
NC_000009.10:g.129670464T>G	NCBI36
NG_011792.1:g.14380A>C
NG_011792.2:g.14380A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.973A>C
ENST00000643029.1:c.*2148A>C	ENSP00000496586.1:n.*2148A>C
ENST00000643338.1:c.*2037A>C	ENSP00000495890.1:n.*2037A>C
ENST00000644144.2:c.473A>C MANE Select	ENSP00000494600.1:p.Glu158Ala
ENST00000645007.1:c.*2397A>C	ENSP00000494773.1:n.*2397A>C
ENST00000646171.1:c.*506A>C	ENSP00000495484.1:n.*506A>C
ENST00000223836.10:c.521A>C	ENSP00000223836.10:p.Glu174Ala
ENST00000373156.5:c.473A>C	ENSP00000362249.1:p.Glu158Ala
ENST00000373176.5:c.473A>C	ENSP00000362271.1:p.Glu158Ala
ENST00000413016.5:c.295A>C
ENST00000550143.5:c.253A>C	ENSP00000449130.1:n.253A>C
NM_000476.2:c.473A>C	NP_000467.1:p.Glu158Ala
XM_005251786.2:c.521A>C	XP_005251843.1:p.Glu174Ala
XM_011518348.1:c.473A>C	XP_011516650.1:p.Glu158Ala
XM_011518349.1:c.293A>C	XP_011516651.1:p.Glu98Ala
NM_001318121.1:c.473A>C	NP_001305050.1:p.Glu158Ala
NM_001318122.1:c.521A>C	NP_001305051.1:p.Glu174Ala
XM_017014428.1:c.473A>C	XP_016869917.1:p.Glu158Ala
XM_024447439.1:c.452A>C	XP_024303207.1:p.Glu151Ala
XM_024447440.1:c.293A>C	XP_024303208.1:p.Glu98Ala
NM_001318122.2:c.521A>C	NP_001305051.1:p.Glu174Ala
NM_000476.3:c.473A>C MANE Select	NP_000467.1:p.Glu158Ala
NR_174625.1:n.3792A>C
NR_174626.1:n.3635A>C
NR_174627.1:n.3672A>C
NR_174628.1:n.3050A>C
NR_174629.1:n.2995A>C
NR_174630.1:n.3031A>C
NR_174631.1:n.2976A>C
NR_174632.1:n.3065A>C