Canonical Allele Identifier: CA374951441

Gene: AK1

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127872707C>G , CM000671.2:g.127872707C>G	GRCh38
NC_000009.11:g.130634986C>G , CM000671.1:g.130634986C>G	GRCh37
NC_000009.10:g.129674807C>G	NCBI36
NG_011792.1:g.10037G>C
NG_011792.2:g.10037G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000476.3:c.190G>C MANE Select	NP_000467.1:p.Gly64Arg
ENST00000644144.2:c.190G>C MANE Select	ENSP00000494600.1:p.Gly64Arg
NM_000476.2:c.190G>C	NP_000467.1:p.Gly64Arg
NM_001318121.1:c.190G>C	NP_001305050.1:p.Gly64Arg
NM_001318122.1:c.238G>C	NP_001305051.1:p.Gly80Arg
NM_001318122.2:c.238G>C	NP_001305051.1:p.Gly80Arg
NR_174625.1:n.3509G>C
NR_174626.1:n.3389G>C
NR_174627.1:n.3389G>C
NR_174628.1:n.2767G>C
NR_174629.1:n.2712G>C
NR_174630.1:n.2748G>C
NR_174631.1:n.2693G>C
NR_174632.1:n.2782G>C
ENST00000223836.10:c.238G>C	ENSP00000223836.10:p.Gly80Arg
ENST00000373156.5:c.190G>C	ENSP00000362249.1:p.Gly64Arg
ENST00000373176.5:c.190G>C	ENSP00000362271.1:p.Gly64Arg
ENST00000413016.5:c.29+319G>C
ENST00000476274.7:n.690G>C
ENST00000550143.5:c.7G>C	ENSP00000449130.1:p.Gly3Arg
ENST00000550992.1:c.*210G>C	ENSP00000448741.1:n.*210G>C
ENST00000643029.1:c.*1865G>C	ENSP00000496586.1:n.*1865G>C
ENST00000643338.1:c.*1754G>C	ENSP00000495890.1:n.*1754G>C
ENST00000645007.1:c.*2114G>C	ENSP00000494773.1:n.*2114G>C
ENST00000646171.1:c.*223G>C	ENSP00000495484.1:n.*223G>C
XM_005251786.2:c.238G>C	XP_005251843.1:p.Gly80Arg
XM_011518348.1:c.190G>C	XP_011516650.1:p.Gly64Arg
XM_011518349.1:c.10G>C	XP_011516651.1:p.Gly4Arg
XM_017014428.1:c.190G>C	XP_016869917.1:p.Gly64Arg
XM_024447439.1:c.169G>C	XP_024303207.1:p.Gly57Arg
XM_024447440.1:c.10G>C	XP_024303208.1:p.Gly4Arg