Canonical Allele Identifier: CA5253428

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127872711C>T , CM000671.2:g.127872711C>T	GRCh38
NC_000009.11:g.130634990C>T , CM000671.1:g.130634990C>T	GRCh37
NC_000009.10:g.129674811C>T	NCBI36
NG_011792.1:g.10033G>A
NG_011792.2:g.10033G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.686G>A
ENST00000643029.1:c.*1861G>A	ENSP00000496586.1:n.*1861G>A
ENST00000643338.1:c.*1750G>A	ENSP00000495890.1:n.*1750G>A
ENST00000644144.2:c.186G>A MANE Select	ENSP00000494600.1:p.Glu62=
ENST00000645007.1:c.*2110G>A	ENSP00000494773.1:n.*2110G>A
ENST00000646171.1:c.*219G>A	ENSP00000495484.1:n.*219G>A
ENST00000223836.10:c.234G>A	ENSP00000223836.10:p.Glu78=
ENST00000373156.5:c.186G>A	ENSP00000362249.1:p.Glu62=
ENST00000373176.5:c.186G>A	ENSP00000362271.1:p.Glu62=
ENST00000413016.5:c.29+315G>A
ENST00000550143.5:c.3G>A	ENSP00000449130.1:p.Glu1=
ENST00000550992.1:c.*206G>A	ENSP00000448741.1:n.*206G>A
NM_000476.2:c.186G>A	NP_000467.1:p.Glu62=
XM_005251786.2:c.234G>A	XP_005251843.1:p.Glu78=
XM_011518348.1:c.186G>A	XP_011516650.1:p.Glu62=
XM_011518349.1:c.6G>A	XP_011516651.1:p.Glu2=
NM_001318121.1:c.186G>A	NP_001305050.1:p.Glu62=
NM_001318122.1:c.234G>A	NP_001305051.1:p.Glu78=
XM_017014428.1:c.186G>A	XP_016869917.1:p.Glu62=
XM_024447439.1:c.165G>A	XP_024303207.1:p.Glu55=
XM_024447440.1:c.6G>A	XP_024303208.1:p.Glu2=
NM_001318122.2:c.234G>A	NP_001305051.1:p.Glu78=
NM_000476.3:c.186G>A MANE Select	NP_000467.1:p.Glu62=
NR_174625.1:n.3505G>A
NR_174626.1:n.3385G>A
NR_174627.1:n.3385G>A
NR_174628.1:n.2763G>A
NR_174629.1:n.2708G>A
NR_174630.1:n.2744G>A
NR_174631.1:n.2689G>A
NR_174632.1:n.2778G>A