Canonical Allele Identifier: CA5253337

Gene: AK1

Linked Data

• ClinVar Variation Id: 439396
• ClinVar RCV Id: RCV002056902
• dbSNP Id: rs913986
• ExAC: 9:130630639 A / G
• gnomAD v2: 9-130630639-A-G
• gnomAD v3: 9-127868360-A-G
• gnomAD v4: 9-127868360-A-G
• MyVariant Identifiers: chr9:g.130630639A>G (hg19) ; chr9:g.127868360A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868360A>G , CM000671.2:g.127868360A>G	GRCh38
NC_000009.11:g.130630639A>G , CM000671.1:g.130630639A>G	GRCh37
NC_000009.10:g.129670460A>G	NCBI36
NG_011792.2:g.14384T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.977T>C
ENST00000643029.1:c.*2152T>C	ENSP00000496586.1:n.*2152T>C
ENST00000643338.1:c.*2041T>C	ENSP00000495890.1:n.*2041T>C
ENST00000644144.2:c.477T>C MANE Select	ENSP00000494600.1:p.Pro159=
ENST00000645007.1:c.*2401T>C	ENSP00000494773.1:n.*2401T>C
ENST00000646171.1:c.*510T>C	ENSP00000495484.1:n.*510T>C
ENST00000223836.10:c.525T>C	ENSP00000223836.10:p.Pro175=
ENST00000373156.5:c.477T>C	ENSP00000362249.1:p.Pro159=
ENST00000373176.5:c.477T>C	ENSP00000362271.1:p.Pro159=
ENST00000413016.5:c.299T>C
ENST00000550143.5:c.257T>C	ENSP00000449130.1:n.257T>C
XM_005251786.2:c.525T>C	XP_005251843.1:p.Pro175=
XM_011518348.1:c.477T>C	XP_011516650.1:p.Pro159=
XM_011518349.1:c.297T>C	XP_011516651.1:p.Pro99=
XM_017014428.1:c.477T>C	XP_016869917.1:p.Pro159=
XM_024447439.1:c.456T>C	XP_024303207.1:p.Pro152=
XM_024447440.1:c.297T>C	XP_024303208.1:p.Pro99=
NM_001318122.2:c.525T>C	NP_001305051.1:p.Pro175=
NM_000476.3:c.477T>C MANE Select	NP_000467.1:p.Pro159=
NR_174625.1:n.3796T>C
NR_174626.1:n.3639T>C
NR_174627.1:n.3676T>C
NR_174628.1:n.3054T>C
NR_174629.1:n.2999T>C
NR_174630.1:n.3035T>C
NR_174631.1:n.2980T>C
NR_174632.1:n.3069T>C