Canonical Allele Identifier: CA374947704

Gene: AK1

Linked Data

• dbSNP Id: rs1225543302
• gnomAD v4: 9-127868480-G-C
• MyVariant Identifiers: chr9:g.130630759G>C (hg19) ; chr9:g.127868480G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868480G>C , CM000671.2:g.127868480G>C	GRCh38
NC_000009.11:g.130630759G>C , CM000671.1:g.130630759G>C	GRCh37
NC_000009.10:g.129670580G>C	NCBI36
NG_011792.1:g.14264C>G
NG_011792.2:g.14264C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.857C>G
ENST00000643029.1:c.*2032C>G	ENSP00000496586.1:n.*2032C>G
ENST00000643338.1:c.*1921C>G	ENSP00000495890.1:n.*1921C>G
ENST00000644144.2:c.357C>G MANE Select	ENSP00000494600.1:p.Asp119Glu
ENST00000645007.1:c.*2281C>G	ENSP00000494773.1:n.*2281C>G
ENST00000646171.1:c.*390C>G	ENSP00000495484.1:n.*390C>G
ENST00000223836.10:c.405C>G	ENSP00000223836.10:p.Asp135Glu
ENST00000373156.5:c.357C>G	ENSP00000362249.1:p.Asp119Glu
ENST00000373176.5:c.357C>G	ENSP00000362271.1:p.Asp119Glu
ENST00000413016.5:c.179C>G
ENST00000550143.5:c.142-5C>G	ENSP00000449130.1:n.142-5C>G
ENST00000550992.1:c.*377C>G	ENSP00000448741.1:n.*377C>G
NM_000476.2:c.357C>G	NP_000467.1:p.Asp119Glu
XM_005251786.2:c.405C>G	XP_005251843.1:p.Asp135Glu
XM_011518348.1:c.357C>G	XP_011516650.1:p.Asp119Glu
XM_011518349.1:c.177C>G	XP_011516651.1:p.Asp59Glu
NM_001318121.1:c.357C>G	NP_001305050.1:p.Asp119Glu
NM_001318122.1:c.405C>G	NP_001305051.1:p.Asp135Glu
XM_017014428.1:c.357C>G	XP_016869917.1:p.Asp119Glu
XM_024447439.1:c.336C>G	XP_024303207.1:p.Asp112Glu
XM_024447440.1:c.177C>G	XP_024303208.1:p.Asp59Glu
NM_001318122.2:c.405C>G	NP_001305051.1:p.Asp135Glu
NM_000476.3:c.357C>G MANE Select	NP_000467.1:p.Asp119Glu
NR_174625.1:n.3676C>G
NR_174626.1:n.3524-5C>G
NR_174627.1:n.3556C>G
NR_174628.1:n.2934C>G
NR_174629.1:n.2879C>G
NR_174630.1:n.2915C>G
NR_174631.1:n.2860C>G
NR_174632.1:n.2949C>G