Canonical Allele Identifier: CA467224201

Gene: AK1

Linked Data

• dbSNP Id: rs1196553199
• MyVariant Identifiers: chr9:g.130630711G>A (hg19) ; chr9:g.127868432G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868432G>A , CM000671.2:g.127868432G>A	GRCh38
NC_000009.11:g.130630711G>A , CM000671.1:g.130630711G>A	GRCh37
NC_000009.10:g.129670532G>A	NCBI36
NG_011792.1:g.14312C>T
NG_011792.2:g.14312C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.905C>T
ENST00000643029.1:c.*2080C>T	ENSP00000496586.1:n.*2080C>T
ENST00000643338.1:c.*1969C>T	ENSP00000495890.1:n.*1969C>T
ENST00000644144.2:c.405C>T MANE Select	ENSP00000494600.1:p.Thr135=
ENST00000645007.1:c.*2329C>T	ENSP00000494773.1:n.*2329C>T
ENST00000646171.1:c.*438C>T	ENSP00000495484.1:n.*438C>T
ENST00000223836.10:c.453C>T	ENSP00000223836.10:p.Thr151=
ENST00000373156.5:c.405C>T	ENSP00000362249.1:p.Thr135=
ENST00000373176.5:c.405C>T	ENSP00000362271.1:p.Thr135=
ENST00000413016.5:c.227C>T
ENST00000550143.5:c.185C>T	ENSP00000449130.1:n.185C>T
NM_000476.2:c.405C>T	NP_000467.1:p.Thr135=
XM_005251786.2:c.453C>T	XP_005251843.1:p.Thr151=
XM_011518348.1:c.405C>T	XP_011516650.1:p.Thr135=
XM_011518349.1:c.225C>T	XP_011516651.1:p.Thr75=
NM_001318121.1:c.405C>T	NP_001305050.1:p.Thr135=
NM_001318122.1:c.453C>T	NP_001305051.1:p.Thr151=
XM_017014428.1:c.405C>T	XP_016869917.1:p.Thr135=
XM_024447439.1:c.384C>T	XP_024303207.1:p.Thr128=
XM_024447440.1:c.225C>T	XP_024303208.1:p.Thr75=
NM_001318122.2:c.453C>T	NP_001305051.1:p.Thr151=
NM_000476.3:c.405C>T MANE Select	NP_000467.1:p.Thr135=
NR_174625.1:n.3724C>T
NR_174626.1:n.3567C>T
NR_174627.1:n.3604C>T
NR_174628.1:n.2982C>T
NR_174629.1:n.2927C>T
NR_174630.1:n.2963C>T
NR_174631.1:n.2908C>T
NR_174632.1:n.2997C>T