Canonical Allele Identifier: CA5253354

Gene: AK1

Linked Data

• ClinVar Variation Id: 402354
• ClinVar RCV Id: RCV000455455 ; RCV000755798 ; RCV001672750
• dbSNP Id: rs8192462
• ExAC: 9:130630749 C / G
• gnomAD v2: 9-130630749-C-G
• gnomAD v3: 9-127868470-C-G
• gnomAD v4: 9-127868470-C-G
• MyVariant Identifiers: chr9:g.130630749C>G (hg19) ; chr9:g.127868470C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868470C>G , CM000671.2:g.127868470C>G	GRCh38
NC_000009.11:g.130630749C>G , CM000671.1:g.130630749C>G	GRCh37
NC_000009.10:g.129670570C>G	NCBI36
NG_011792.1:g.14274G>C
NG_011792.2:g.14274G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.867G>C
ENST00000643029.1:c.*2042G>C	ENSP00000496586.1:n.*2042G>C
ENST00000643338.1:c.*1931G>C	ENSP00000495890.1:n.*1931G>C
ENST00000644144.2:c.367G>C MANE Select	ENSP00000494600.1:p.Glu123Gln
ENST00000645007.1:c.*2291G>C	ENSP00000494773.1:n.*2291G>C
ENST00000646171.1:c.*400G>C	ENSP00000495484.1:n.*400G>C
ENST00000223836.10:c.415G>C	ENSP00000223836.10:p.Glu139Gln
ENST00000373156.5:c.367G>C	ENSP00000362249.1:p.Glu123Gln
ENST00000373176.5:c.367G>C	ENSP00000362271.1:p.Glu123Gln
ENST00000413016.5:c.189G>C
ENST00000550143.5:c.147G>C	ENSP00000449130.1:p.Leu49=
ENST00000550992.1:c.*387G>C	ENSP00000448741.1:n.*387G>C
NM_000476.2:c.367G>C	NP_000467.1:p.Glu123Gln
XM_005251786.2:c.415G>C	XP_005251843.1:p.Glu139Gln
XM_011518348.1:c.367G>C	XP_011516650.1:p.Glu123Gln
XM_011518349.1:c.187G>C	XP_011516651.1:p.Glu63Gln
NM_001318121.1:c.367G>C	NP_001305050.1:p.Glu123Gln
NM_001318122.1:c.415G>C	NP_001305051.1:p.Glu139Gln
XM_017014428.1:c.367G>C	XP_016869917.1:p.Glu123Gln
XM_024447439.1:c.346G>C	XP_024303207.1:p.Glu116Gln
XM_024447440.1:c.187G>C	XP_024303208.1:p.Glu63Gln
NM_001318122.2:c.415G>C	NP_001305051.1:p.Glu139Gln
NM_000476.3:c.367G>C MANE Select	NP_000467.1:p.Glu123Gln
NR_174625.1:n.3686G>C
NR_174626.1:n.3529G>C
NR_174627.1:n.3566G>C
NR_174628.1:n.2944G>C
NR_174629.1:n.2889G>C
NR_174630.1:n.2925G>C
NR_174631.1:n.2870G>C
NR_174632.1:n.2959G>C