Canonical Allele Identifier: CA374947697

Gene: AK1

Linked Data

• gnomAD v4: 9-127868478-G-T
• MyVariant Identifiers: chr9:g.130630757G>T (hg19) ; chr9:g.127868478G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868478G>T , CM000671.2:g.127868478G>T	GRCh38
NC_000009.11:g.130630757G>T , CM000671.1:g.130630757G>T	GRCh37
NC_000009.10:g.129670578G>T	NCBI36
NG_011792.1:g.14266C>A
NG_011792.2:g.14266C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.859C>A
ENST00000643029.1:c.*2034C>A	ENSP00000496586.1:n.*2034C>A
ENST00000643338.1:c.*1923C>A	ENSP00000495890.1:n.*1923C>A
ENST00000644144.2:c.359C>A MANE Select	ENSP00000494600.1:p.Ala120Glu
ENST00000645007.1:c.*2283C>A	ENSP00000494773.1:n.*2283C>A
ENST00000646171.1:c.*392C>A	ENSP00000495484.1:n.*392C>A
ENST00000223836.10:c.407C>A	ENSP00000223836.10:p.Ala136Glu
ENST00000373156.5:c.359C>A	ENSP00000362249.1:p.Ala120Glu
ENST00000373176.5:c.359C>A	ENSP00000362271.1:p.Ala120Glu
ENST00000413016.5:c.181C>A
ENST00000550143.5:c.142-3C>A	ENSP00000449130.1:n.142-3C>A
ENST00000550992.1:c.*379C>A	ENSP00000448741.1:n.*379C>A
NM_000476.2:c.359C>A	NP_000467.1:p.Ala120Glu
XM_005251786.2:c.407C>A	XP_005251843.1:p.Ala136Glu
XM_011518348.1:c.359C>A	XP_011516650.1:p.Ala120Glu
XM_011518349.1:c.179C>A	XP_011516651.1:p.Ala60Glu
NM_001318121.1:c.359C>A	NP_001305050.1:p.Ala120Glu
NM_001318122.1:c.407C>A	NP_001305051.1:p.Ala136Glu
XM_017014428.1:c.359C>A	XP_016869917.1:p.Ala120Glu
XM_024447439.1:c.338C>A	XP_024303207.1:p.Ala113Glu
XM_024447440.1:c.179C>A	XP_024303208.1:p.Ala60Glu
NM_001318122.2:c.407C>A	NP_001305051.1:p.Ala136Glu
NM_000476.3:c.359C>A MANE Select	NP_000467.1:p.Ala120Glu
NR_174625.1:n.3678C>A
NR_174626.1:n.3524-3C>A
NR_174627.1:n.3558C>A
NR_174628.1:n.2936C>A
NR_174629.1:n.2881C>A
NR_174630.1:n.2917C>A
NR_174631.1:n.2862C>A
NR_174632.1:n.2951C>A