Canonical Allele Identifier: CA467224441

Gene: AK1

Linked Data

• gnomAD v4: 9-127868477-T-A
• MyVariant Identifiers: chr9:g.130630756T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868477T>A , CM000671.2:g.127868477T>A	GRCh38
NC_000009.11:g.130630756T>A , CM000671.1:g.130630756T>A	GRCh37
NC_000009.10:g.129670577T>A	NCBI36
NG_011792.1:g.14267A>T
NG_011792.2:g.14267A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.860A>T
ENST00000643029.1:c.*2035A>T	ENSP00000496586.1:n.*2035A>T
ENST00000643338.1:c.*1924A>T	ENSP00000495890.1:n.*1924A>T
ENST00000644144.2:c.360A>T MANE Select	ENSP00000494600.1:p.Ala120=
ENST00000645007.1:c.*2284A>T	ENSP00000494773.1:n.*2284A>T
ENST00000646171.1:c.*393A>T	ENSP00000495484.1:n.*393A>T
ENST00000223836.10:c.408A>T	ENSP00000223836.10:p.Ala136=
ENST00000373156.5:c.360A>T	ENSP00000362249.1:p.Ala120=
ENST00000373176.5:c.360A>T	ENSP00000362271.1:p.Ala120=
ENST00000413016.5:c.182A>T
ENST00000550143.5:c.142-2A>T	ENSP00000449130.1:n.142-2A>T
ENST00000550992.1:c.*380A>T	ENSP00000448741.1:n.*380A>T
NM_000476.2:c.360A>T	NP_000467.1:p.Ala120=
XM_005251786.2:c.408A>T	XP_005251843.1:p.Ala136=
XM_011518348.1:c.360A>T	XP_011516650.1:p.Ala120=
XM_011518349.1:c.180A>T	XP_011516651.1:p.Ala60=
NM_001318121.1:c.360A>T	NP_001305050.1:p.Ala120=
NM_001318122.1:c.408A>T	NP_001305051.1:p.Ala136=
XM_017014428.1:c.360A>T	XP_016869917.1:p.Ala120=
XM_024447439.1:c.339A>T	XP_024303207.1:p.Ala113=
XM_024447440.1:c.180A>T	XP_024303208.1:p.Ala60=
NM_001318122.2:c.408A>T	NP_001305051.1:p.Ala136=
NM_000476.3:c.360A>T MANE Select	NP_000467.1:p.Ala120=
NR_174625.1:n.3679A>T
NR_174626.1:n.3524-2A>T
NR_174627.1:n.3559A>T
NR_174628.1:n.2937A>T
NR_174629.1:n.2882A>T
NR_174630.1:n.2918A>T
NR_174631.1:n.2863A>T
NR_174632.1:n.2952A>T