Canonical Allele Identifier: CA374947664

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630746T>C (hg19) ; chr9:g.127868467T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868467T>C , CM000671.2:g.127868467T>C	GRCh38
NC_000009.11:g.130630746T>C , CM000671.1:g.130630746T>C	GRCh37
NC_000009.10:g.129670567T>C	NCBI36
NG_011792.1:g.14277A>G
NG_011792.2:g.14277A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.870A>G
ENST00000643029.1:c.*2045A>G	ENSP00000496586.1:n.*2045A>G
ENST00000643338.1:c.*1934A>G	ENSP00000495890.1:n.*1934A>G
ENST00000644144.2:c.370A>G MANE Select	ENSP00000494600.1:p.Thr124Ala
ENST00000645007.1:c.*2294A>G	ENSP00000494773.1:n.*2294A>G
ENST00000646171.1:c.*403A>G	ENSP00000495484.1:n.*403A>G
ENST00000223836.10:c.418A>G	ENSP00000223836.10:p.Thr140Ala
ENST00000373156.5:c.370A>G	ENSP00000362249.1:p.Thr124Ala
ENST00000373176.5:c.370A>G	ENSP00000362271.1:p.Thr124Ala
ENST00000413016.5:c.192A>G
ENST00000550143.5:c.150A>G	ENSP00000449130.1:p.Arg50=
ENST00000550992.1:c.*390A>G	ENSP00000448741.1:n.*390A>G
NM_000476.2:c.370A>G	NP_000467.1:p.Thr124Ala
XM_005251786.2:c.418A>G	XP_005251843.1:p.Thr140Ala
XM_011518348.1:c.370A>G	XP_011516650.1:p.Thr124Ala
XM_011518349.1:c.190A>G	XP_011516651.1:p.Thr64Ala
NM_001318121.1:c.370A>G	NP_001305050.1:p.Thr124Ala
NM_001318122.1:c.418A>G	NP_001305051.1:p.Thr140Ala
XM_017014428.1:c.370A>G	XP_016869917.1:p.Thr124Ala
XM_024447439.1:c.349A>G	XP_024303207.1:p.Thr117Ala
XM_024447440.1:c.190A>G	XP_024303208.1:p.Thr64Ala
NM_001318122.2:c.418A>G	NP_001305051.1:p.Thr140Ala
NM_000476.3:c.370A>G MANE Select	NP_000467.1:p.Thr124Ala
NR_174625.1:n.3689A>G
NR_174626.1:n.3532A>G
NR_174627.1:n.3569A>G
NR_174628.1:n.2947A>G
NR_174629.1:n.2892A>G
NR_174630.1:n.2928A>G
NR_174631.1:n.2873A>G
NR_174632.1:n.2962A>G