Canonical Allele Identifier: CA5253352

Gene: AK1

Linked Data

• dbSNP Id: rs141248779
• ExAC: 9:130630747 C / G
• gnomAD v2: 9-130630747-C-G
• gnomAD v4: 9-127868468-C-G
• MyVariant Identifiers: chr9:g.130630747C>G (hg19) ; chr9:g.127868468C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868468C>G , CM000671.2:g.127868468C>G	GRCh38
NC_000009.11:g.130630747C>G , CM000671.1:g.130630747C>G	GRCh37
NC_000009.10:g.129670568C>G	NCBI36
NG_011792.1:g.14276G>C
NG_011792.2:g.14276G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.869G>C
ENST00000643029.1:c.*2044G>C	ENSP00000496586.1:n.*2044G>C
ENST00000643338.1:c.*1933G>C	ENSP00000495890.1:n.*1933G>C
ENST00000644144.2:c.369G>C MANE Select	ENSP00000494600.1:p.Glu123Asp
ENST00000645007.1:c.*2293G>C	ENSP00000494773.1:n.*2293G>C
ENST00000646171.1:c.*402G>C	ENSP00000495484.1:n.*402G>C
ENST00000223836.10:c.417G>C	ENSP00000223836.10:p.Glu139Asp
ENST00000373156.5:c.369G>C	ENSP00000362249.1:p.Glu123Asp
ENST00000373176.5:c.369G>C	ENSP00000362271.1:p.Glu123Asp
ENST00000413016.5:c.191G>C
ENST00000550143.5:c.149G>C	ENSP00000449130.1:p.Arg50Thr
ENST00000550992.1:c.*389G>C	ENSP00000448741.1:n.*389G>C
NM_000476.2:c.369G>C	NP_000467.1:p.Glu123Asp
XM_005251786.2:c.417G>C	XP_005251843.1:p.Glu139Asp
XM_011518348.1:c.369G>C	XP_011516650.1:p.Glu123Asp
XM_011518349.1:c.189G>C	XP_011516651.1:p.Glu63Asp
NM_001318121.1:c.369G>C	NP_001305050.1:p.Glu123Asp
NM_001318122.1:c.417G>C	NP_001305051.1:p.Glu139Asp
XM_017014428.1:c.369G>C	XP_016869917.1:p.Glu123Asp
XM_024447439.1:c.348G>C	XP_024303207.1:p.Glu116Asp
XM_024447440.1:c.189G>C	XP_024303208.1:p.Glu63Asp
NM_001318122.2:c.417G>C	NP_001305051.1:p.Glu139Asp
NM_000476.3:c.369G>C MANE Select	NP_000467.1:p.Glu123Asp
NR_174625.1:n.3688G>C
NR_174626.1:n.3531G>C
NR_174627.1:n.3568G>C
NR_174628.1:n.2946G>C
NR_174629.1:n.2891G>C
NR_174630.1:n.2927G>C
NR_174631.1:n.2872G>C
NR_174632.1:n.2961G>C