Canonical Allele Identifier: CA467224297

Gene: AK1

Linked Data

• gnomAD v4: 9-127868453-C-A
• MyVariant Identifiers: chr9:g.130630732C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868453C>A , CM000671.2:g.127868453C>A	GRCh38
NC_000009.11:g.130630732C>A , CM000671.1:g.130630732C>A	GRCh37
NC_000009.10:g.129670553C>A	NCBI36
NG_011792.1:g.14291G>T
NG_011792.2:g.14291G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.884G>T
ENST00000643029.1:c.*2059G>T	ENSP00000496586.1:n.*2059G>T
ENST00000643338.1:c.*1948G>T	ENSP00000495890.1:n.*1948G>T
ENST00000644144.2:c.384G>T MANE Select	ENSP00000494600.1:p.Arg128=
ENST00000645007.1:c.*2308G>T	ENSP00000494773.1:n.*2308G>T
ENST00000646171.1:c.*417G>T	ENSP00000495484.1:n.*417G>T
ENST00000223836.10:c.432G>T	ENSP00000223836.10:p.Arg144=
ENST00000373156.5:c.384G>T	ENSP00000362249.1:p.Arg128=
ENST00000373176.5:c.384G>T	ENSP00000362271.1:p.Arg128=
ENST00000413016.5:c.206G>T
ENST00000550143.5:c.164G>T	ENSP00000449130.1:n.164G>T
NM_000476.2:c.384G>T	NP_000467.1:p.Arg128=
XM_005251786.2:c.432G>T	XP_005251843.1:p.Arg144=
XM_011518348.1:c.384G>T	XP_011516650.1:p.Arg128=
XM_011518349.1:c.204G>T	XP_011516651.1:p.Arg68=
NM_001318121.1:c.384G>T	NP_001305050.1:p.Arg128=
NM_001318122.1:c.432G>T	NP_001305051.1:p.Arg144=
XM_017014428.1:c.384G>T	XP_016869917.1:p.Arg128=
XM_024447439.1:c.363G>T	XP_024303207.1:p.Arg121=
XM_024447440.1:c.204G>T	XP_024303208.1:p.Arg68=
NM_001318122.2:c.432G>T	NP_001305051.1:p.Arg144=
NM_000476.3:c.384G>T MANE Select	NP_000467.1:p.Arg128=
NR_174625.1:n.3703G>T
NR_174626.1:n.3546G>T
NR_174627.1:n.3583G>T
NR_174628.1:n.2961G>T
NR_174629.1:n.2906G>T
NR_174630.1:n.2942G>T
NR_174631.1:n.2887G>T
NR_174632.1:n.2976G>T