Canonical Allele Identifier: CA374946975

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630642T>A (hg19) ; chr9:g.127868363T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868363T>A , CM000671.2:g.127868363T>A	GRCh38
NC_000009.11:g.130630642T>A , CM000671.1:g.130630642T>A	GRCh37
NC_000009.10:g.129670463T>A	NCBI36
NG_011792.1:g.14381A>T
NG_011792.2:g.14381A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.974A>T
ENST00000643029.1:c.*2149A>T	ENSP00000496586.1:n.*2149A>T
ENST00000643338.1:c.*2038A>T	ENSP00000495890.1:n.*2038A>T
ENST00000644144.2:c.474A>T MANE Select	ENSP00000494600.1:p.Glu158Asp
ENST00000645007.1:c.*2398A>T	ENSP00000494773.1:n.*2398A>T
ENST00000646171.1:c.*507A>T	ENSP00000495484.1:n.*507A>T
ENST00000223836.10:c.522A>T	ENSP00000223836.10:p.Glu174Asp
ENST00000373156.5:c.474A>T	ENSP00000362249.1:p.Glu158Asp
ENST00000373176.5:c.474A>T	ENSP00000362271.1:p.Glu158Asp
ENST00000413016.5:c.296A>T
ENST00000550143.5:c.254A>T	ENSP00000449130.1:n.254A>T
NM_000476.2:c.474A>T	NP_000467.1:p.Glu158Asp
XM_005251786.2:c.522A>T	XP_005251843.1:p.Glu174Asp
XM_011518348.1:c.474A>T	XP_011516650.1:p.Glu158Asp
XM_011518349.1:c.294A>T	XP_011516651.1:p.Glu98Asp
NM_001318121.1:c.474A>T	NP_001305050.1:p.Glu158Asp
NM_001318122.1:c.522A>T	NP_001305051.1:p.Glu174Asp
XM_017014428.1:c.474A>T	XP_016869917.1:p.Glu158Asp
XM_024447439.1:c.453A>T	XP_024303207.1:p.Glu151Asp
XM_024447440.1:c.294A>T	XP_024303208.1:p.Glu98Asp
NM_001318122.2:c.522A>T	NP_001305051.1:p.Glu174Asp
NM_000476.3:c.474A>T MANE Select	NP_000467.1:p.Glu158Asp
NR_174625.1:n.3793A>T
NR_174626.1:n.3636A>T
NR_174627.1:n.3673A>T
NR_174628.1:n.3051A>T
NR_174629.1:n.2996A>T
NR_174630.1:n.3032A>T
NR_174631.1:n.2977A>T
NR_174632.1:n.3066A>T