Canonical Allele Identifier: CA374947618

Gene: AK1

Linked Data

• dbSNP Id: rs1399110826
• gnomAD v2: 9-130630740-T-C
• gnomAD v4: 9-127868461-T-C
• MyVariant Identifiers: chr9:g.130630740T>C (hg19) ; chr9:g.127868461T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868461T>C , CM000671.2:g.127868461T>C	GRCh38
NC_000009.11:g.130630740T>C , CM000671.1:g.130630740T>C	GRCh37
NC_000009.10:g.129670561T>C	NCBI36
NG_011792.1:g.14283A>G
NG_011792.2:g.14283A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.876A>G
ENST00000643029.1:c.*2051A>G	ENSP00000496586.1:n.*2051A>G
ENST00000643338.1:c.*1940A>G	ENSP00000495890.1:n.*1940A>G
ENST00000644144.2:c.376A>G MANE Select	ENSP00000494600.1:p.Thr126Ala
ENST00000645007.1:c.*2300A>G	ENSP00000494773.1:n.*2300A>G
ENST00000646171.1:c.*409A>G	ENSP00000495484.1:n.*409A>G
ENST00000223836.10:c.424A>G	ENSP00000223836.10:p.Thr142Ala
ENST00000373156.5:c.376A>G	ENSP00000362249.1:p.Thr126Ala
ENST00000373176.5:c.376A>G	ENSP00000362271.1:p.Thr126Ala
ENST00000413016.5:c.198A>G
ENST00000550143.5:c.156A>G	ENSP00000449130.1:p.Ter52Trp
NM_000476.2:c.376A>G	NP_000467.1:p.Thr126Ala
XM_005251786.2:c.424A>G	XP_005251843.1:p.Thr142Ala
XM_011518348.1:c.376A>G	XP_011516650.1:p.Thr126Ala
XM_011518349.1:c.196A>G	XP_011516651.1:p.Thr66Ala
NM_001318121.1:c.376A>G	NP_001305050.1:p.Thr126Ala
NM_001318122.1:c.424A>G	NP_001305051.1:p.Thr142Ala
XM_017014428.1:c.376A>G	XP_016869917.1:p.Thr126Ala
XM_024447439.1:c.355A>G	XP_024303207.1:p.Thr119Ala
XM_024447440.1:c.196A>G	XP_024303208.1:p.Thr66Ala
NM_001318122.2:c.424A>G	NP_001305051.1:p.Thr142Ala
NM_000476.3:c.376A>G MANE Select	NP_000467.1:p.Thr126Ala
NR_174625.1:n.3695A>G
NR_174626.1:n.3538A>G
NR_174627.1:n.3575A>G
NR_174628.1:n.2953A>G
NR_174629.1:n.2898A>G
NR_174630.1:n.2934A>G
NR_174631.1:n.2879A>G
NR_174632.1:n.2968A>G