Canonical Allele Identifier: CA374947474

Gene: AK1

Linked Data

• dbSNP Id: rs1281401180
• gnomAD v2: 9-130630718-C-G
• gnomAD v4: 9-127868439-C-G
• MyVariant Identifiers: chr9:g.130630718C>G (hg19) ; chr9:g.127868439C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868439C>G , CM000671.2:g.127868439C>G	GRCh38
NC_000009.11:g.130630718C>G , CM000671.1:g.130630718C>G	GRCh37
NC_000009.10:g.129670539C>G	NCBI36
NG_011792.1:g.14305G>C
NG_011792.2:g.14305G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.898G>C
ENST00000643029.1:c.*2073G>C	ENSP00000496586.1:n.*2073G>C
ENST00000643338.1:c.*1962G>C	ENSP00000495890.1:n.*1962G>C
ENST00000644144.2:c.398G>C MANE Select	ENSP00000494600.1:p.Gly133Ala
ENST00000645007.1:c.*2322G>C	ENSP00000494773.1:n.*2322G>C
ENST00000646171.1:c.*431G>C	ENSP00000495484.1:n.*431G>C
ENST00000223836.10:c.446G>C	ENSP00000223836.10:p.Gly149Ala
ENST00000373156.5:c.398G>C	ENSP00000362249.1:p.Gly133Ala
ENST00000373176.5:c.398G>C	ENSP00000362271.1:p.Gly133Ala
ENST00000413016.5:c.220G>C
ENST00000550143.5:c.178G>C	ENSP00000449130.1:n.178G>C
NM_000476.2:c.398G>C	NP_000467.1:p.Gly133Ala
XM_005251786.2:c.446G>C	XP_005251843.1:p.Gly149Ala
XM_011518348.1:c.398G>C	XP_011516650.1:p.Gly133Ala
XM_011518349.1:c.218G>C	XP_011516651.1:p.Gly73Ala
NM_001318121.1:c.398G>C	NP_001305050.1:p.Gly133Ala
NM_001318122.1:c.446G>C	NP_001305051.1:p.Gly149Ala
XM_017014428.1:c.398G>C	XP_016869917.1:p.Gly133Ala
XM_024447439.1:c.377G>C	XP_024303207.1:p.Gly126Ala
XM_024447440.1:c.218G>C	XP_024303208.1:p.Gly73Ala
NM_001318122.2:c.446G>C	NP_001305051.1:p.Gly149Ala
NM_000476.3:c.398G>C MANE Select	NP_000467.1:p.Gly133Ala
NR_174625.1:n.3717G>C
NR_174626.1:n.3560G>C
NR_174627.1:n.3597G>C
NR_174628.1:n.2975G>C
NR_174629.1:n.2920G>C
NR_174630.1:n.2956G>C
NR_174631.1:n.2901G>C
NR_174632.1:n.2990G>C