Canonical Allele Identifier: CA374947657

Gene: AK1

Linked Data

• gnomAD v4: 9-127868464-T-C
• MyVariant Identifiers: chr9:g.130630743T>C (hg19) ; chr9:g.127868464T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868464T>C , CM000671.2:g.127868464T>C	GRCh38
NC_000009.11:g.130630743T>C , CM000671.1:g.130630743T>C	GRCh37
NC_000009.10:g.129670564T>C	NCBI36
NG_011792.1:g.14280A>G
NG_011792.2:g.14280A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.873A>G
ENST00000643029.1:c.*2048A>G	ENSP00000496586.1:n.*2048A>G
ENST00000643338.1:c.*1937A>G	ENSP00000495890.1:n.*1937A>G
ENST00000644144.2:c.373A>G MANE Select	ENSP00000494600.1:p.Met125Val
ENST00000645007.1:c.*2297A>G	ENSP00000494773.1:n.*2297A>G
ENST00000646171.1:c.*406A>G	ENSP00000495484.1:n.*406A>G
ENST00000223836.10:c.421A>G	ENSP00000223836.10:p.Met141Val
ENST00000373156.5:c.373A>G	ENSP00000362249.1:p.Met125Val
ENST00000373176.5:c.373A>G	ENSP00000362271.1:p.Met125Val
ENST00000413016.5:c.195A>G
ENST00000550143.5:c.153A>G	ENSP00000449130.1:p.Pro51=
ENST00000550992.1:c.*393A>G	ENSP00000448741.1:n.*393A>G
NM_000476.2:c.373A>G	NP_000467.1:p.Met125Val
XM_005251786.2:c.421A>G	XP_005251843.1:p.Met141Val
XM_011518348.1:c.373A>G	XP_011516650.1:p.Met125Val
XM_011518349.1:c.193A>G	XP_011516651.1:p.Met65Val
NM_001318121.1:c.373A>G	NP_001305050.1:p.Met125Val
NM_001318122.1:c.421A>G	NP_001305051.1:p.Met141Val
XM_017014428.1:c.373A>G	XP_016869917.1:p.Met125Val
XM_024447439.1:c.352A>G	XP_024303207.1:p.Met118Val
XM_024447440.1:c.193A>G	XP_024303208.1:p.Met65Val
NM_001318122.2:c.421A>G	NP_001305051.1:p.Met141Val
NM_000476.3:c.373A>G MANE Select	NP_000467.1:p.Met125Val
NR_174625.1:n.3692A>G
NR_174626.1:n.3535A>G
NR_174627.1:n.3572A>G
NR_174628.1:n.2950A>G
NR_174629.1:n.2895A>G
NR_174630.1:n.2931A>G
NR_174631.1:n.2876A>G
NR_174632.1:n.2965A>G