Canonical Allele Identifier: CA467223642

Gene: AK1

Linked Data

• gnomAD v4: 9-127868399-G-T
• MyVariant Identifiers: chr9:g.130630678G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868399G>T , CM000671.2:g.127868399G>T	GRCh38
NC_000009.11:g.130630678G>T , CM000671.1:g.130630678G>T	GRCh37
NC_000009.10:g.129670499G>T	NCBI36
NG_011792.1:g.14345C>A
NG_011792.2:g.14345C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.938C>A
ENST00000643029.1:c.*2113C>A	ENSP00000496586.1:n.*2113C>A
ENST00000643338.1:c.*2002C>A	ENSP00000495890.1:n.*2002C>A
ENST00000644144.2:c.438C>A MANE Select	ENSP00000494600.1:p.Ile146=
ENST00000645007.1:c.*2362C>A	ENSP00000494773.1:n.*2362C>A
ENST00000646171.1:c.*471C>A	ENSP00000495484.1:n.*471C>A
ENST00000223836.10:c.486C>A	ENSP00000223836.10:p.Ile162=
ENST00000373156.5:c.438C>A	ENSP00000362249.1:p.Ile146=
ENST00000373176.5:c.438C>A	ENSP00000362271.1:p.Ile146=
ENST00000413016.5:c.260C>A
ENST00000550143.5:c.218C>A	ENSP00000449130.1:n.218C>A
NM_000476.2:c.438C>A	NP_000467.1:p.Ile146=
XM_005251786.2:c.486C>A	XP_005251843.1:p.Ile162=
XM_011518348.1:c.438C>A	XP_011516650.1:p.Ile146=
XM_011518349.1:c.258C>A	XP_011516651.1:p.Ile86=
NM_001318121.1:c.438C>A	NP_001305050.1:p.Ile146=
NM_001318122.1:c.486C>A	NP_001305051.1:p.Ile162=
XM_017014428.1:c.438C>A	XP_016869917.1:p.Ile146=
XM_024447439.1:c.417C>A	XP_024303207.1:p.Ile139=
XM_024447440.1:c.258C>A	XP_024303208.1:p.Ile86=
NM_001318122.2:c.486C>A	NP_001305051.1:p.Ile162=
NM_000476.3:c.438C>A MANE Select	NP_000467.1:p.Ile146=
NR_174625.1:n.3757C>A
NR_174626.1:n.3600C>A
NR_174627.1:n.3637C>A
NR_174628.1:n.3015C>A
NR_174629.1:n.2960C>A
NR_174630.1:n.2996C>A
NR_174631.1:n.2941C>A
NR_174632.1:n.3030C>A