Canonical Allele Identifier: CA5253328

Gene: AK1

Linked Data

• dbSNP Id: rs753808695
• ExAC: 9:130630611 T / C
• gnomAD v2: 9-130630611-T-C
• gnomAD v4: 9-127868332-T-C
• MyVariant Identifiers: chr9:g.130630611T>C (hg19) ; chr9:g.127868332T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868332T>C , CM000671.2:g.127868332T>C	GRCh38
NC_000009.11:g.130630611T>C , CM000671.1:g.130630611T>C	GRCh37
NC_000009.10:g.129670432T>C	NCBI36
NG_011792.1:g.14412A>G
NG_011792.2:g.14412A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.1005A>G
ENST00000643029.1:c.*2180A>G	ENSP00000496586.1:n.*2180A>G
ENST00000643338.1:c.*2069A>G	ENSP00000495890.1:n.*2069A>G
ENST00000644144.2:c.505A>G MANE Select	ENSP00000494600.1:p.Ile169Val
ENST00000645007.1:c.*2429A>G	ENSP00000494773.1:n.*2429A>G
ENST00000646171.1:c.*538A>G	ENSP00000495484.1:n.*538A>G
ENST00000223836.10:c.553A>G	ENSP00000223836.10:p.Ile185Val
ENST00000373156.5:c.505A>G	ENSP00000362249.1:p.Ile169Val
ENST00000373176.5:c.505A>G	ENSP00000362271.1:p.Ile169Val
ENST00000413016.5:c.327A>G
ENST00000550143.5:c.285A>G	ENSP00000449130.1:n.285A>G
NM_000476.2:c.505A>G	NP_000467.1:p.Ile169Val
XM_005251786.2:c.553A>G	XP_005251843.1:p.Ile185Val
XM_011518348.1:c.505A>G	XP_011516650.1:p.Ile169Val
XM_011518349.1:c.325A>G	XP_011516651.1:p.Ile109Val
NM_001318121.1:c.505A>G	NP_001305050.1:p.Ile169Val
NM_001318122.1:c.553A>G	NP_001305051.1:p.Ile185Val
XM_017014428.1:c.505A>G	XP_016869917.1:p.Ile169Val
XM_024447439.1:c.484A>G	XP_024303207.1:p.Ile162Val
XM_024447440.1:c.325A>G	XP_024303208.1:p.Ile109Val
NM_001318122.2:c.553A>G	NP_001305051.1:p.Ile185Val
NM_000476.3:c.505A>G MANE Select	NP_000467.1:p.Ile169Val
NR_174625.1:n.3824A>G
NR_174626.1:n.3667A>G
NR_174627.1:n.3704A>G
NR_174628.1:n.3082A>G
NR_174629.1:n.3027A>G
NR_174630.1:n.3063A>G
NR_174631.1:n.3008A>G
NR_174632.1:n.3097A>G