Canonical Allele Identifier: CA374947806

Gene: AK1

Linked Data

• gnomAD v4: 9-127868502-G-T
• MyVariant Identifiers: chr9:g.130630781G>T (hg19) ; chr9:g.127868502G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868502G>T , CM000671.2:g.127868502G>T	GRCh38
NC_000009.11:g.130630781G>T , CM000671.1:g.130630781G>T	GRCh37
NC_000009.10:g.129670602G>T	NCBI36
NG_011792.1:g.14242C>A
NG_011792.2:g.14242C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.835C>A
ENST00000643029.1:c.*2010C>A	ENSP00000496586.1:n.*2010C>A
ENST00000643338.1:c.*1899C>A	ENSP00000495890.1:n.*1899C>A
ENST00000644144.2:c.335C>A MANE Select	ENSP00000494600.1:p.Pro112His
ENST00000645007.1:c.*2259C>A	ENSP00000494773.1:n.*2259C>A
ENST00000646171.1:c.*368C>A	ENSP00000495484.1:n.*368C>A
ENST00000223836.10:c.383C>A	ENSP00000223836.10:p.Pro128His
ENST00000373156.5:c.335C>A	ENSP00000362249.1:p.Pro112His
ENST00000373176.5:c.335C>A	ENSP00000362271.1:p.Pro112His
ENST00000413016.5:c.157C>A
ENST00000550143.5:c.142-27C>A	ENSP00000449130.1:n.142-27C>A
ENST00000550992.1:c.*355C>A	ENSP00000448741.1:n.*355C>A
NM_000476.2:c.335C>A	NP_000467.1:p.Pro112His
XM_005251786.2:c.383C>A	XP_005251843.1:p.Pro128His
XM_011518348.1:c.335C>A	XP_011516650.1:p.Pro112His
XM_011518349.1:c.155C>A	XP_011516651.1:p.Pro52His
NM_001318121.1:c.335C>A	NP_001305050.1:p.Pro112His
NM_001318122.1:c.383C>A	NP_001305051.1:p.Pro128His
XM_017014428.1:c.335C>A	XP_016869917.1:p.Pro112His
XM_024447439.1:c.314C>A	XP_024303207.1:p.Pro105His
XM_024447440.1:c.155C>A	XP_024303208.1:p.Pro52His
NM_001318122.2:c.383C>A	NP_001305051.1:p.Pro128His
NM_000476.3:c.335C>A MANE Select	NP_000467.1:p.Pro112His
NR_174625.1:n.3654C>A
NR_174626.1:n.3524-27C>A
NR_174627.1:n.3534C>A
NR_174628.1:n.2912C>A
NR_174629.1:n.2857C>A
NR_174630.1:n.2893C>A
NR_174631.1:n.2838C>A
NR_174632.1:n.2927C>A