Canonical Allele Identifier: CA374952114

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130635058C>G (hg19) ; chr9:g.127872779C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127872779C>G , CM000671.2:g.127872779C>G	GRCh38
NC_000009.11:g.130635058C>G , CM000671.1:g.130635058C>G	GRCh37
NC_000009.10:g.129674879C>G	NCBI36
NG_011792.1:g.9965G>C
NG_011792.2:g.9965G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.618G>C
ENST00000548587.1:n.397G>C
ENST00000643029.1:c.*1793G>C	ENSP00000496586.1:n.*1793G>C
ENST00000643338.1:c.*1682G>C	ENSP00000495890.1:n.*1682G>C
ENST00000644144.2:c.118G>C MANE Select	ENSP00000494600.1:p.Gly40Arg
ENST00000645007.1:c.*2042G>C	ENSP00000494773.1:n.*2042G>C
ENST00000646171.1:c.*151G>C	ENSP00000495484.1:n.*151G>C
ENST00000223836.10:c.166G>C	ENSP00000223836.10:p.Gly56Arg
ENST00000373156.5:c.118G>C	ENSP00000362249.1:p.Gly40Arg
ENST00000373176.5:c.118G>C	ENSP00000362271.1:p.Gly40Arg
ENST00000413016.5:c.29+247G>C
ENST00000550992.1:c.*138G>C	ENSP00000448741.1:n.*138G>C
NM_000476.2:c.118G>C	NP_000467.1:p.Gly40Arg
XM_005251786.2:c.166G>C	XP_005251843.1:p.Gly56Arg
XM_011518348.1:c.118G>C	XP_011516650.1:p.Gly40Arg
XM_011518349.1:c.-63G>C	XP_011516651.1:n.-63G>C
NM_001318121.1:c.118G>C	NP_001305050.1:p.Gly40Arg
NM_001318122.1:c.166G>C	NP_001305051.1:p.Gly56Arg
XM_017014428.1:c.118G>C	XP_016869917.1:p.Gly40Arg
XM_024447439.1:c.97G>C	XP_024303207.1:p.Gly33Arg
XM_024447440.1:c.-63G>C	XP_024303208.1:n.-63G>C
NM_001318122.2:c.166G>C	NP_001305051.1:p.Gly56Arg
NM_000476.3:c.118G>C MANE Select	NP_000467.1:p.Gly40Arg
NR_174625.1:n.3437G>C
NR_174626.1:n.3317G>C
NR_174627.1:n.3317G>C
NR_174628.1:n.2695G>C
NR_174629.1:n.2640G>C
NR_174630.1:n.2676G>C
NR_174631.1:n.2621G>C
NR_174632.1:n.2710G>C