Canonical Allele Identifier: CA467224125

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630693G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868414G>A , CM000671.2:g.127868414G>A	GRCh38
NC_000009.11:g.130630693G>A , CM000671.1:g.130630693G>A	GRCh37
NC_000009.10:g.129670514G>A	NCBI36
NG_011792.1:g.14330C>T
NG_011792.2:g.14330C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.923C>T
ENST00000643029.1:c.*2098C>T	ENSP00000496586.1:n.*2098C>T
ENST00000643338.1:c.*1987C>T	ENSP00000495890.1:n.*1987C>T
ENST00000644144.2:c.423C>T MANE Select	ENSP00000494600.1:p.Asp141=
ENST00000645007.1:c.*2347C>T	ENSP00000494773.1:n.*2347C>T
ENST00000646171.1:c.*456C>T	ENSP00000495484.1:n.*456C>T
ENST00000223836.10:c.471C>T	ENSP00000223836.10:p.Asp157=
ENST00000373156.5:c.423C>T	ENSP00000362249.1:p.Asp141=
ENST00000373176.5:c.423C>T	ENSP00000362271.1:p.Asp141=
ENST00000413016.5:c.245C>T
ENST00000550143.5:c.203C>T	ENSP00000449130.1:n.203C>T
NM_000476.2:c.423C>T	NP_000467.1:p.Asp141=
XM_005251786.2:c.471C>T	XP_005251843.1:p.Asp157=
XM_011518348.1:c.423C>T	XP_011516650.1:p.Asp141=
XM_011518349.1:c.243C>T	XP_011516651.1:p.Asp81=
NM_001318121.1:c.423C>T	NP_001305050.1:p.Asp141=
NM_001318122.1:c.471C>T	NP_001305051.1:p.Asp157=
XM_017014428.1:c.423C>T	XP_016869917.1:p.Asp141=
XM_024447439.1:c.402C>T	XP_024303207.1:p.Asp134=
XM_024447440.1:c.243C>T	XP_024303208.1:p.Asp81=
NM_001318122.2:c.471C>T	NP_001305051.1:p.Asp157=
NM_000476.3:c.423C>T MANE Select	NP_000467.1:p.Asp141=
NR_174625.1:n.3742C>T
NR_174626.1:n.3585C>T
NR_174627.1:n.3622C>T
NR_174628.1:n.3000C>T
NR_174629.1:n.2945C>T
NR_174630.1:n.2981C>T
NR_174631.1:n.2926C>T
NR_174632.1:n.3015C>T