Canonical Allele Identifier: CA374947279

Gene: AK1

Linked Data

• gnomAD v4: 9-127868410-C-T
• MyVariant Identifiers: chr9:g.130630689C>T (hg19) ; chr9:g.127868410C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868410C>T , CM000671.2:g.127868410C>T	GRCh38
NC_000009.11:g.130630689C>T , CM000671.1:g.130630689C>T	GRCh37
NC_000009.10:g.129670510C>T	NCBI36
NG_011792.1:g.14334G>A
NG_011792.2:g.14334G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.927G>A
ENST00000643029.1:c.*2102G>A	ENSP00000496586.1:n.*2102G>A
ENST00000643338.1:c.*1991G>A	ENSP00000495890.1:n.*1991G>A
ENST00000644144.2:c.427G>A MANE Select	ENSP00000494600.1:p.Glu143Lys
ENST00000645007.1:c.*2351G>A	ENSP00000494773.1:n.*2351G>A
ENST00000646171.1:c.*460G>A	ENSP00000495484.1:n.*460G>A
ENST00000223836.10:c.475G>A	ENSP00000223836.10:p.Glu159Lys
ENST00000373156.5:c.427G>A	ENSP00000362249.1:p.Glu143Lys
ENST00000373176.5:c.427G>A	ENSP00000362271.1:p.Glu143Lys
ENST00000413016.5:c.249G>A
ENST00000550143.5:c.207G>A	ENSP00000449130.1:n.207G>A
NM_000476.2:c.427G>A	NP_000467.1:p.Glu143Lys
XM_005251786.2:c.475G>A	XP_005251843.1:p.Glu159Lys
XM_011518348.1:c.427G>A	XP_011516650.1:p.Glu143Lys
XM_011518349.1:c.247G>A	XP_011516651.1:p.Glu83Lys
NM_001318121.1:c.427G>A	NP_001305050.1:p.Glu143Lys
NM_001318122.1:c.475G>A	NP_001305051.1:p.Glu159Lys
XM_017014428.1:c.427G>A	XP_016869917.1:p.Glu143Lys
XM_024447439.1:c.406G>A	XP_024303207.1:p.Glu136Lys
XM_024447440.1:c.247G>A	XP_024303208.1:p.Glu83Lys
NM_001318122.2:c.475G>A	NP_001305051.1:p.Glu159Lys
NM_000476.3:c.427G>A MANE Select	NP_000467.1:p.Glu143Lys
NR_174625.1:n.3746G>A
NR_174626.1:n.3589G>A
NR_174627.1:n.3626G>A
NR_174628.1:n.3004G>A
NR_174629.1:n.2949G>A
NR_174630.1:n.2985G>A
NR_174631.1:n.2930G>A
NR_174632.1:n.3019G>A