Canonical Allele Identifier: CA374946976

Gene: AK1

Linked Data

• gnomAD v4: 9-127868364-T-A
• MyVariant Identifiers: chr9:g.130630643T>A (hg19) ; chr9:g.127868364T>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.973A>T
ENST00000643029.1:c.*2148A>T	ENSP00000496586.1:n.*2148A>T
ENST00000643338.1:c.*2037A>T	ENSP00000495890.1:n.*2037A>T
ENST00000644144.2:c.473A>T MANE Select	ENSP00000494600.1:p.Glu158Val
ENST00000645007.1:c.*2397A>T	ENSP00000494773.1:n.*2397A>T
ENST00000646171.1:c.*506A>T	ENSP00000495484.1:n.*506A>T
ENST00000223836.10:c.521A>T	ENSP00000223836.10:p.Glu174Val
ENST00000373156.5:c.473A>T	ENSP00000362249.1:p.Glu158Val
ENST00000373176.5:c.473A>T	ENSP00000362271.1:p.Glu158Val
ENST00000413016.5:c.295A>T
ENST00000550143.5:c.253A>T	ENSP00000449130.1:n.253A>T
NM_000476.2:c.473A>T	NP_000467.1:p.Glu158Val
XM_005251786.2:c.521A>T	XP_005251843.1:p.Glu174Val
XM_011518348.1:c.473A>T	XP_011516650.1:p.Glu158Val
XM_011518349.1:c.293A>T	XP_011516651.1:p.Glu98Val
NM_001318121.1:c.473A>T	NP_001305050.1:p.Glu158Val
NM_001318122.1:c.521A>T	NP_001305051.1:p.Glu174Val
XM_017014428.1:c.473A>T	XP_016869917.1:p.Glu158Val
XM_024447439.1:c.452A>T	XP_024303207.1:p.Glu151Val
XM_024447440.1:c.293A>T	XP_024303208.1:p.Glu98Val
NM_001318122.2:c.521A>T	NP_001305051.1:p.Glu174Val
NM_000476.3:c.473A>T MANE Select	NP_000467.1:p.Glu158Val
NR_174625.1:n.3792A>T
NR_174626.1:n.3635A>T
NR_174627.1:n.3672A>T
NR_174628.1:n.3050A>T
NR_174629.1:n.2995A>T
NR_174630.1:n.3031A>T
NR_174631.1:n.2976A>T
NR_174632.1:n.3065A>T