Canonical Allele Identifier: CA5253345

Gene: AK1

Linked Data

• ClinVar Variation Id: 2332217
• ClinVar RCV Id: RCV003140188 ; RCV004174926
• dbSNP Id: rs7032134
• ExAC: 9:130630707 C / T
• gnomAD v2: 9-130630707-C-T
• gnomAD v3: 9-127868428-C-T
• gnomAD v4: 9-127868428-C-T
• MyVariant Identifiers: chr9:g.130630707C>T (hg19) ; chr9:g.127868428C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868428C>T , CM000671.2:g.127868428C>T	GRCh38
NC_000009.11:g.130630707C>T , CM000671.1:g.130630707C>T	GRCh37
NC_000009.10:g.129670528C>T	NCBI36
NG_011792.1:g.14316G>A
NG_011792.2:g.14316G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.909G>A
ENST00000643029.1:c.*2084G>A	ENSP00000496586.1:n.*2084G>A
ENST00000643338.1:c.*1973G>A	ENSP00000495890.1:n.*1973G>A
ENST00000644144.2:c.409G>A MANE Select	ENSP00000494600.1:p.Gly137Arg
ENST00000645007.1:c.*2333G>A	ENSP00000494773.1:n.*2333G>A
ENST00000646171.1:c.*442G>A	ENSP00000495484.1:n.*442G>A
ENST00000223836.10:c.457G>A	ENSP00000223836.10:p.Gly153Arg
ENST00000373156.5:c.409G>A	ENSP00000362249.1:p.Gly137Arg
ENST00000373176.5:c.409G>A	ENSP00000362271.1:p.Gly137Arg
ENST00000413016.5:c.231G>A
ENST00000550143.5:c.189G>A	ENSP00000449130.1:n.189G>A
NM_000476.2:c.409G>A	NP_000467.1:p.Gly137Arg
XM_005251786.2:c.457G>A	XP_005251843.1:p.Gly153Arg
XM_011518348.1:c.409G>A	XP_011516650.1:p.Gly137Arg
XM_011518349.1:c.229G>A	XP_011516651.1:p.Gly77Arg
NM_001318121.1:c.409G>A	NP_001305050.1:p.Gly137Arg
NM_001318122.1:c.457G>A	NP_001305051.1:p.Gly153Arg
XM_017014428.1:c.409G>A	XP_016869917.1:p.Gly137Arg
XM_024447439.1:c.388G>A	XP_024303207.1:p.Gly130Arg
XM_024447440.1:c.229G>A	XP_024303208.1:p.Gly77Arg
NM_001318122.2:c.457G>A	NP_001305051.1:p.Gly153Arg
NM_000476.3:c.409G>A MANE Select	NP_000467.1:p.Gly137Arg
NR_174625.1:n.3728G>A
NR_174626.1:n.3571G>A
NR_174627.1:n.3608G>A
NR_174628.1:n.2986G>A
NR_174629.1:n.2931G>A
NR_174630.1:n.2967G>A
NR_174631.1:n.2912G>A
NR_174632.1:n.3001G>A