Canonical Allele Identifier: CA5253338

Gene: AK1

Linked Data

• dbSNP Id: rs781654996
• ExAC: 9:130630642 T / G
• gnomAD v2: 9-130630642-T-G
• gnomAD v4: 9-127868363-T-G
• MyVariant Identifiers: chr9:g.130630642T>G (hg19) ; chr9:g.127868363T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868363T>G , CM000671.2:g.127868363T>G	GRCh38
NC_000009.11:g.130630642T>G , CM000671.1:g.130630642T>G	GRCh37
NC_000009.10:g.129670463T>G	NCBI36
NG_011792.1:g.14381A>C
NG_011792.2:g.14381A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.974A>C
ENST00000643029.1:c.*2149A>C	ENSP00000496586.1:n.*2149A>C
ENST00000643338.1:c.*2038A>C	ENSP00000495890.1:n.*2038A>C
ENST00000644144.2:c.474A>C MANE Select	ENSP00000494600.1:p.Glu158Asp
ENST00000645007.1:c.*2398A>C	ENSP00000494773.1:n.*2398A>C
ENST00000646171.1:c.*507A>C	ENSP00000495484.1:n.*507A>C
ENST00000223836.10:c.522A>C	ENSP00000223836.10:p.Glu174Asp
ENST00000373156.5:c.474A>C	ENSP00000362249.1:p.Glu158Asp
ENST00000373176.5:c.474A>C	ENSP00000362271.1:p.Glu158Asp
ENST00000413016.5:c.296A>C
ENST00000550143.5:c.254A>C	ENSP00000449130.1:n.254A>C
NM_000476.2:c.474A>C	NP_000467.1:p.Glu158Asp
XM_005251786.2:c.522A>C	XP_005251843.1:p.Glu174Asp
XM_011518348.1:c.474A>C	XP_011516650.1:p.Glu158Asp
XM_011518349.1:c.294A>C	XP_011516651.1:p.Glu98Asp
NM_001318121.1:c.474A>C	NP_001305050.1:p.Glu158Asp
NM_001318122.1:c.522A>C	NP_001305051.1:p.Glu174Asp
XM_017014428.1:c.474A>C	XP_016869917.1:p.Glu158Asp
XM_024447439.1:c.453A>C	XP_024303207.1:p.Glu151Asp
XM_024447440.1:c.294A>C	XP_024303208.1:p.Glu98Asp
NM_001318122.2:c.522A>C	NP_001305051.1:p.Glu174Asp
NM_000476.3:c.474A>C MANE Select	NP_000467.1:p.Glu158Asp
NR_174625.1:n.3793A>C
NR_174626.1:n.3636A>C
NR_174627.1:n.3673A>C
NR_174628.1:n.3051A>C
NR_174629.1:n.2996A>C
NR_174630.1:n.3032A>C
NR_174631.1:n.2977A>C
NR_174632.1:n.3066A>C