Canonical Allele Identifier: CA374947256

Gene: AK1

Linked Data

• dbSNP Id: rs1173879024
• gnomAD v2: 9-130630684-C-G
• gnomAD v4: 9-127868405-C-G
• MyVariant Identifiers: chr9:g.130630684C>G (hg19) ; chr9:g.127868405C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868405C>G , CM000671.2:g.127868405C>G	GRCh38
NC_000009.11:g.130630684C>G , CM000671.1:g.130630684C>G	GRCh37
NC_000009.10:g.129670505C>G	NCBI36
NG_011792.1:g.14339G>C
NG_011792.2:g.14339G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.932G>C
ENST00000643029.1:c.*2107G>C	ENSP00000496586.1:n.*2107G>C
ENST00000643338.1:c.*1996G>C	ENSP00000495890.1:n.*1996G>C
ENST00000644144.2:c.432G>C MANE Select	ENSP00000494600.1:p.Glu144Asp
ENST00000645007.1:c.*2356G>C	ENSP00000494773.1:n.*2356G>C
ENST00000646171.1:c.*465G>C	ENSP00000495484.1:n.*465G>C
ENST00000223836.10:c.480G>C	ENSP00000223836.10:p.Glu160Asp
ENST00000373156.5:c.432G>C	ENSP00000362249.1:p.Glu144Asp
ENST00000373176.5:c.432G>C	ENSP00000362271.1:p.Glu144Asp
ENST00000413016.5:c.254G>C
ENST00000550143.5:c.212G>C	ENSP00000449130.1:n.212G>C
NM_000476.2:c.432G>C	NP_000467.1:p.Glu144Asp
XM_005251786.2:c.480G>C	XP_005251843.1:p.Glu160Asp
XM_011518348.1:c.432G>C	XP_011516650.1:p.Glu144Asp
XM_011518349.1:c.252G>C	XP_011516651.1:p.Glu84Asp
NM_001318121.1:c.432G>C	NP_001305050.1:p.Glu144Asp
NM_001318122.1:c.480G>C	NP_001305051.1:p.Glu160Asp
XM_017014428.1:c.432G>C	XP_016869917.1:p.Glu144Asp
XM_024447439.1:c.411G>C	XP_024303207.1:p.Glu137Asp
XM_024447440.1:c.252G>C	XP_024303208.1:p.Glu84Asp
NM_001318122.2:c.480G>C	NP_001305051.1:p.Glu160Asp
NM_000476.3:c.432G>C MANE Select	NP_000467.1:p.Glu144Asp
NR_174625.1:n.3751G>C
NR_174626.1:n.3594G>C
NR_174627.1:n.3631G>C
NR_174628.1:n.3009G>C
NR_174629.1:n.2954G>C
NR_174630.1:n.2990G>C
NR_174631.1:n.2935G>C
NR_174632.1:n.3024G>C