Canonical Allele Identifier: CA5253357

Gene: AK1

Linked Data

• dbSNP Id: rs746291169
• ExAC: 9:130630799 C / T
• gnomAD v2: 9-130630799-C-T
• gnomAD v3: 9-127868520-C-T
• gnomAD v4: 9-127868520-C-T
• MyVariant Identifiers: chr9:g.130630799C>T (hg19) ; chr9:g.127868520C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868520C>T , CM000671.2:g.127868520C>T	GRCh38
NC_000009.11:g.130630799C>T , CM000671.1:g.130630799C>T	GRCh37
NC_000009.10:g.129670620C>T	NCBI36
NG_011792.1:g.14224G>A
NG_011792.2:g.14224G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.825-8G>A
ENST00000643029.1:c.*2000-8G>A	ENSP00000496586.1:n.*2000-8G>A
ENST00000643338.1:c.*1889-8G>A	ENSP00000495890.1:n.*1889-8G>A
ENST00000644144.2:c.325-8G>A MANE Select	ENSP00000494600.1:n.325-8G>A
ENST00000645007.1:c.*2249-8G>A	ENSP00000494773.1:n.*2249-8G>A
ENST00000646171.1:c.*358-8G>A	ENSP00000495484.1:n.*358-8G>A
ENST00000223836.10:c.373-8G>A	ENSP00000223836.10:n.373-8G>A
ENST00000373156.5:c.325-8G>A	ENSP00000362249.1:n.325-8G>A
ENST00000373176.5:c.325-8G>A	ENSP00000362271.1:n.325-8G>A
ENST00000413016.5:c.147-8G>A
ENST00000550143.5:c.142-45G>A	ENSP00000449130.1:n.142-45G>A
ENST00000550992.1:c.*345-8G>A	ENSP00000448741.1:n.*345-8G>A
NM_000476.2:c.325-8G>A	NP_000467.1:n.325-8G>A
XM_005251786.2:c.373-8G>A	XP_005251843.1:n.373-8G>A
XM_011518348.1:c.325-8G>A	XP_011516650.1:n.325-8G>A
XM_011518349.1:c.145-8G>A	XP_011516651.1:n.145-8G>A
NM_001318121.1:c.325-8G>A	NP_001305050.1:n.325-8G>A
NM_001318122.1:c.373-8G>A	NP_001305051.1:n.373-8G>A
XM_017014428.1:c.325-8G>A	XP_016869917.1:n.325-8G>A
XM_024447439.1:c.304-8G>A	XP_024303207.1:n.304-8G>A
XM_024447440.1:c.145-8G>A	XP_024303208.1:n.145-8G>A
NM_001318122.2:c.373-8G>A	NP_001305051.1:n.373-8G>A
NM_000476.3:c.325-8G>A MANE Select	NP_000467.1:n.325-8G>A
NR_174625.1:n.3644-8G>A
NR_174626.1:n.3524-45G>A
NR_174627.1:n.3524-8G>A
NR_174628.1:n.2902-8G>A
NR_174629.1:n.2847-8G>A
NR_174630.1:n.2883-8G>A
NR_174631.1:n.2828-8G>A
NR_174632.1:n.2917-8G>A