Canonical Allele Identifier: CA590601370

Gene: AK1

Linked Data

• dbSNP Id: rs1291327433
• gnomAD v2: 9-130630839-G-A
• gnomAD v4: 9-127868560-G-A
• MyVariant Identifiers: chr9:g.130630839G>A (hg19) ; chr9:g.127868560G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868560G>A , CM000671.2:g.127868560G>A	GRCh38
NC_000009.11:g.130630839G>A , CM000671.1:g.130630839G>A	GRCh37
NC_000009.10:g.129670660G>A	NCBI36
NG_011792.1:g.14184C>T
NG_011792.2:g.14184C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.825-48C>T
ENST00000643029.1:c.*2000-48C>T	ENSP00000496586.1:n.*2000-48C>T
ENST00000643338.1:c.*1889-48C>T	ENSP00000495890.1:n.*1889-48C>T
ENST00000644144.2:c.325-48C>T MANE Select	ENSP00000494600.1:n.325-48C>T
ENST00000645007.1:c.*2249-48C>T	ENSP00000494773.1:n.*2249-48C>T
ENST00000646171.1:c.*358-48C>T	ENSP00000495484.1:n.*358-48C>T
ENST00000223836.10:c.373-48C>T	ENSP00000223836.10:n.373-48C>T
ENST00000373156.5:c.325-48C>T	ENSP00000362249.1:n.325-48C>T
ENST00000373176.5:c.325-48C>T	ENSP00000362271.1:n.325-48C>T
ENST00000413016.5:c.147-48C>T
ENST00000550143.5:c.142-85C>T	ENSP00000449130.1:n.142-85C>T
ENST00000550992.1:c.*345-48C>T	ENSP00000448741.1:n.*345-48C>T
NM_000476.2:c.325-48C>T	NP_000467.1:n.325-48C>T
XM_005251786.2:c.373-48C>T	XP_005251843.1:n.373-48C>T
XM_011518348.1:c.325-48C>T	XP_011516650.1:n.325-48C>T
XM_011518349.1:c.145-48C>T	XP_011516651.1:n.145-48C>T
NM_001318121.1:c.325-48C>T	NP_001305050.1:n.325-48C>T
NM_001318122.1:c.373-48C>T	NP_001305051.1:n.373-48C>T
XM_017014428.1:c.325-48C>T	XP_016869917.1:n.325-48C>T
XM_024447439.1:c.304-48C>T	XP_024303207.1:n.304-48C>T
XM_024447440.1:c.145-48C>T	XP_024303208.1:n.145-48C>T
NM_001318122.2:c.373-48C>T	NP_001305051.1:n.373-48C>T
NM_000476.3:c.325-48C>T MANE Select	NP_000467.1:n.325-48C>T
NR_174625.1:n.3644-48C>T
NR_174626.1:n.3524-85C>T
NR_174627.1:n.3524-48C>T
NR_174628.1:n.2902-48C>T
NR_174629.1:n.2847-48C>T
NR_174630.1:n.2883-48C>T
NR_174631.1:n.2828-48C>T
NR_174632.1:n.2917-48C>T