Canonical Allele Identifier: CA374947364

Gene: AK1

Linked Data

• dbSNP Id: rs772874780
• gnomAD v2: 9-130630703-C-G
• MyVariant Identifiers: chr9:g.130630703C>G (hg19) ; chr9:g.127868424C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868424C>G , CM000671.2:g.127868424C>G	GRCh38
NC_000009.11:g.130630703C>G , CM000671.1:g.130630703C>G	GRCh37
NC_000009.10:g.129670524C>G	NCBI36
NG_011792.1:g.14320G>C
NG_011792.2:g.14320G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.913G>C
ENST00000643029.1:c.*2088G>C	ENSP00000496586.1:n.*2088G>C
ENST00000643338.1:c.*1977G>C	ENSP00000495890.1:n.*1977G>C
ENST00000644144.2:c.413G>C MANE Select	ENSP00000494600.1:p.Arg138Pro
ENST00000645007.1:c.*2337G>C	ENSP00000494773.1:n.*2337G>C
ENST00000646171.1:c.*446G>C	ENSP00000495484.1:n.*446G>C
ENST00000223836.10:c.461G>C	ENSP00000223836.10:p.Arg154Pro
ENST00000373156.5:c.413G>C	ENSP00000362249.1:p.Arg138Pro
ENST00000373176.5:c.413G>C	ENSP00000362271.1:p.Arg138Pro
ENST00000413016.5:c.235G>C
ENST00000550143.5:c.193G>C	ENSP00000449130.1:n.193G>C
NM_000476.2:c.413G>C	NP_000467.1:p.Arg138Pro
XM_005251786.2:c.461G>C	XP_005251843.1:p.Arg154Pro
XM_011518348.1:c.413G>C	XP_011516650.1:p.Arg138Pro
XM_011518349.1:c.233G>C	XP_011516651.1:p.Arg78Pro
NM_001318121.1:c.413G>C	NP_001305050.1:p.Arg138Pro
NM_001318122.1:c.461G>C	NP_001305051.1:p.Arg154Pro
XM_017014428.1:c.413G>C	XP_016869917.1:p.Arg138Pro
XM_024447439.1:c.392G>C	XP_024303207.1:p.Arg131Pro
XM_024447440.1:c.233G>C	XP_024303208.1:p.Arg78Pro
NM_001318122.2:c.461G>C	NP_001305051.1:p.Arg154Pro
NM_000476.3:c.413G>C MANE Select	NP_000467.1:p.Arg138Pro
NR_174625.1:n.3732G>C
NR_174626.1:n.3575G>C
NR_174627.1:n.3612G>C
NR_174628.1:n.2990G>C
NR_174629.1:n.2935G>C
NR_174630.1:n.2971G>C
NR_174631.1:n.2916G>C
NR_174632.1:n.3005G>C