Canonical Allele Identifier: CA374947377

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630704G>T (hg19) ; chr9:g.127868425G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868425G>T , CM000671.2:g.127868425G>T	GRCh38
NC_000009.11:g.130630704G>T , CM000671.1:g.130630704G>T	GRCh37
NC_000009.10:g.129670525G>T	NCBI36
NG_011792.1:g.14319C>A
NG_011792.2:g.14319C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.912C>A
ENST00000643029.1:c.*2087C>A	ENSP00000496586.1:n.*2087C>A
ENST00000643338.1:c.*1976C>A	ENSP00000495890.1:n.*1976C>A
ENST00000644144.2:c.412C>A MANE Select	ENSP00000494600.1:p.Arg138Ser
ENST00000645007.1:c.*2336C>A	ENSP00000494773.1:n.*2336C>A
ENST00000646171.1:c.*445C>A	ENSP00000495484.1:n.*445C>A
ENST00000223836.10:c.460C>A	ENSP00000223836.10:p.Arg154Ser
ENST00000373156.5:c.412C>A	ENSP00000362249.1:p.Arg138Ser
ENST00000373176.5:c.412C>A	ENSP00000362271.1:p.Arg138Ser
ENST00000413016.5:c.234C>A
ENST00000550143.5:c.192C>A	ENSP00000449130.1:n.192C>A
NM_000476.2:c.412C>A	NP_000467.1:p.Arg138Ser
XM_005251786.2:c.460C>A	XP_005251843.1:p.Arg154Ser
XM_011518348.1:c.412C>A	XP_011516650.1:p.Arg138Ser
XM_011518349.1:c.232C>A	XP_011516651.1:p.Arg78Ser
NM_001318121.1:c.412C>A	NP_001305050.1:p.Arg138Ser
NM_001318122.1:c.460C>A	NP_001305051.1:p.Arg154Ser
XM_017014428.1:c.412C>A	XP_016869917.1:p.Arg138Ser
XM_024447439.1:c.391C>A	XP_024303207.1:p.Arg131Ser
XM_024447440.1:c.232C>A	XP_024303208.1:p.Arg78Ser
NM_001318122.2:c.460C>A	NP_001305051.1:p.Arg154Ser
NM_000476.3:c.412C>A MANE Select	NP_000467.1:p.Arg138Ser
NR_174625.1:n.3731C>A
NR_174626.1:n.3574C>A
NR_174627.1:n.3611C>A
NR_174628.1:n.2989C>A
NR_174629.1:n.2934C>A
NR_174630.1:n.2970C>A
NR_174631.1:n.2915C>A
NR_174632.1:n.3004C>A