Canonical Allele Identifier: CA467223482

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630645T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868366T>A , CM000671.2:g.127868366T>A	GRCh38
NC_000009.11:g.130630645T>A , CM000671.1:g.130630645T>A	GRCh37
NC_000009.10:g.129670466T>A	NCBI36
NG_011792.1:g.14378A>T
NG_011792.2:g.14378A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.971A>T
ENST00000643029.1:c.*2146A>T	ENSP00000496586.1:n.*2146A>T
ENST00000643338.1:c.*2035A>T	ENSP00000495890.1:n.*2035A>T
ENST00000644144.2:c.471A>T MANE Select	ENSP00000494600.1:p.Thr157=
ENST00000645007.1:c.*2395A>T	ENSP00000494773.1:n.*2395A>T
ENST00000646171.1:c.*504A>T	ENSP00000495484.1:n.*504A>T
ENST00000223836.10:c.519A>T	ENSP00000223836.10:p.Thr173=
ENST00000373156.5:c.471A>T	ENSP00000362249.1:p.Thr157=
ENST00000373176.5:c.471A>T	ENSP00000362271.1:p.Thr157=
ENST00000413016.5:c.293A>T
ENST00000550143.5:c.251A>T	ENSP00000449130.1:n.251A>T
NM_000476.2:c.471A>T	NP_000467.1:p.Thr157=
XM_005251786.2:c.519A>T	XP_005251843.1:p.Thr173=
XM_011518348.1:c.471A>T	XP_011516650.1:p.Thr157=
XM_011518349.1:c.291A>T	XP_011516651.1:p.Thr97=
NM_001318121.1:c.471A>T	NP_001305050.1:p.Thr157=
NM_001318122.1:c.519A>T	NP_001305051.1:p.Thr173=
XM_017014428.1:c.471A>T	XP_016869917.1:p.Thr157=
XM_024447439.1:c.450A>T	XP_024303207.1:p.Thr150=
XM_024447440.1:c.291A>T	XP_024303208.1:p.Thr97=
NM_001318122.2:c.519A>T	NP_001305051.1:p.Thr173=
NM_000476.3:c.471A>T MANE Select	NP_000467.1:p.Thr157=
NR_174625.1:n.3790A>T
NR_174626.1:n.3633A>T
NR_174627.1:n.3670A>T
NR_174628.1:n.3048A>T
NR_174629.1:n.2993A>T
NR_174630.1:n.3029A>T
NR_174631.1:n.2974A>T
NR_174632.1:n.3063A>T