Canonical Allele Identifier: CA374947685

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630754C>T (hg19) ; chr9:g.127868475C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868475C>T , CM000671.2:g.127868475C>T	GRCh38
NC_000009.11:g.130630754C>T , CM000671.1:g.130630754C>T	GRCh37
NC_000009.10:g.129670575C>T	NCBI36
NG_011792.1:g.14269G>A
NG_011792.2:g.14269G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.862G>A
ENST00000643029.1:c.*2037G>A	ENSP00000496586.1:n.*2037G>A
ENST00000643338.1:c.*1926G>A	ENSP00000495890.1:n.*1926G>A
ENST00000644144.2:c.362G>A MANE Select	ENSP00000494600.1:p.Gly121Asp
ENST00000645007.1:c.*2286G>A	ENSP00000494773.1:n.*2286G>A
ENST00000646171.1:c.*395G>A	ENSP00000495484.1:n.*395G>A
ENST00000223836.10:c.410G>A	ENSP00000223836.10:p.Gly137Asp
ENST00000373156.5:c.362G>A	ENSP00000362249.1:p.Gly121Asp
ENST00000373176.5:c.362G>A	ENSP00000362271.1:p.Gly121Asp
ENST00000413016.5:c.184G>A
ENST00000550143.5:c.142G>A	ENSP00000449130.1:p.Ala48Thr
ENST00000550992.1:c.*382G>A	ENSP00000448741.1:n.*382G>A
NM_000476.2:c.362G>A	NP_000467.1:p.Gly121Asp
XM_005251786.2:c.410G>A	XP_005251843.1:p.Gly137Asp
XM_011518348.1:c.362G>A	XP_011516650.1:p.Gly121Asp
XM_011518349.1:c.182G>A	XP_011516651.1:p.Gly61Asp
NM_001318121.1:c.362G>A	NP_001305050.1:p.Gly121Asp
NM_001318122.1:c.410G>A	NP_001305051.1:p.Gly137Asp
XM_017014428.1:c.362G>A	XP_016869917.1:p.Gly121Asp
XM_024447439.1:c.341G>A	XP_024303207.1:p.Gly114Asp
XM_024447440.1:c.182G>A	XP_024303208.1:p.Gly61Asp
NM_001318122.2:c.410G>A	NP_001305051.1:p.Gly137Asp
NM_000476.3:c.362G>A MANE Select	NP_000467.1:p.Gly121Asp
NR_174625.1:n.3681G>A
NR_174626.1:n.3524G>A
NR_174627.1:n.3561G>A
NR_174628.1:n.2939G>A
NR_174629.1:n.2884G>A
NR_174630.1:n.2920G>A
NR_174631.1:n.2865G>A
NR_174632.1:n.2954G>A