Canonical Allele Identifier: CA374952443

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127872807C>G , CM000671.2:g.127872807C>G	GRCh38
NC_000009.11:g.130635086C>G , CM000671.1:g.130635086C>G	GRCh37
NC_000009.10:g.129674907C>G	NCBI36
NG_011792.1:g.9937G>C
NG_011792.2:g.9937G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.590G>C
ENST00000548587.1:n.369G>C
ENST00000643029.1:c.*1765G>C	ENSP00000496586.1:n.*1765G>C
ENST00000643338.1:c.*1654G>C	ENSP00000495890.1:n.*1654G>C
ENST00000644144.2:c.90G>C MANE Select	ENSP00000494600.1:p.Gln30His
ENST00000645007.1:c.*2014G>C	ENSP00000494773.1:n.*2014G>C
ENST00000646171.1:c.*123G>C	ENSP00000495484.1:n.*123G>C
ENST00000223836.10:c.138G>C	ENSP00000223836.10:p.Gln46His
ENST00000373156.5:c.90G>C	ENSP00000362249.1:p.Gln30His
ENST00000373176.5:c.90G>C	ENSP00000362271.1:p.Gln30His
ENST00000413016.5:c.29+219G>C
ENST00000550992.1:c.*110G>C	ENSP00000448741.1:n.*110G>C
NM_000476.2:c.90G>C	NP_000467.1:p.Gln30His
XM_005251786.2:c.138G>C	XP_005251843.1:p.Gln46His
XM_011518348.1:c.90G>C	XP_011516650.1:p.Gln30His
XM_011518349.1:c.-91G>C	XP_011516651.1:n.-91G>C
NM_001318121.1:c.90G>C	NP_001305050.1:p.Gln30His
NM_001318122.1:c.138G>C	NP_001305051.1:p.Gln46His
XM_017014428.1:c.90G>C	XP_016869917.1:p.Gln30His
XM_024447439.1:c.69G>C	XP_024303207.1:p.Gln23His
XM_024447440.1:c.-91G>C	XP_024303208.1:n.-91G>C
NM_001318122.2:c.138G>C	NP_001305051.1:p.Gln46His
NM_000476.3:c.90G>C MANE Select	NP_000467.1:p.Gln30His
NR_174625.1:n.3409G>C
NR_174626.1:n.3289G>C
NR_174627.1:n.3289G>C
NR_174628.1:n.2667G>C
NR_174629.1:n.2612G>C
NR_174630.1:n.2648G>C
NR_174631.1:n.2593G>C
NR_174632.1:n.2682G>C