Canonical Allele Identifier: CA374947298

Gene: AK1

Linked Data

• MyVariant Identifiers: chr9:g.130630692T>G (hg19) ; chr9:g.127868413T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868413T>G , CM000671.2:g.127868413T>G	GRCh38
NC_000009.11:g.130630692T>G , CM000671.1:g.130630692T>G	GRCh37
NC_000009.10:g.129670513T>G	NCBI36
NG_011792.1:g.14331A>C
NG_011792.2:g.14331A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.924A>C
ENST00000643029.1:c.*2099A>C	ENSP00000496586.1:n.*2099A>C
ENST00000643338.1:c.*1988A>C	ENSP00000495890.1:n.*1988A>C
ENST00000644144.2:c.424A>C MANE Select	ENSP00000494600.1:p.Asn142His
ENST00000645007.1:c.*2348A>C	ENSP00000494773.1:n.*2348A>C
ENST00000646171.1:c.*457A>C	ENSP00000495484.1:n.*457A>C
ENST00000223836.10:c.472A>C	ENSP00000223836.10:p.Asn158His
ENST00000373156.5:c.424A>C	ENSP00000362249.1:p.Asn142His
ENST00000373176.5:c.424A>C	ENSP00000362271.1:p.Asn142His
ENST00000413016.5:c.246A>C
ENST00000550143.5:c.204A>C	ENSP00000449130.1:n.204A>C
NM_000476.2:c.424A>C	NP_000467.1:p.Asn142His
XM_005251786.2:c.472A>C	XP_005251843.1:p.Asn158His
XM_011518348.1:c.424A>C	XP_011516650.1:p.Asn142His
XM_011518349.1:c.244A>C	XP_011516651.1:p.Asn82His
NM_001318121.1:c.424A>C	NP_001305050.1:p.Asn142His
NM_001318122.1:c.472A>C	NP_001305051.1:p.Asn158His
XM_017014428.1:c.424A>C	XP_016869917.1:p.Asn142His
XM_024447439.1:c.403A>C	XP_024303207.1:p.Asn135His
XM_024447440.1:c.244A>C	XP_024303208.1:p.Asn82His
NM_001318122.2:c.472A>C	NP_001305051.1:p.Asn158His
NM_000476.3:c.424A>C MANE Select	NP_000467.1:p.Asn142His
NR_174625.1:n.3743A>C
NR_174626.1:n.3586A>C
NR_174627.1:n.3623A>C
NR_174628.1:n.3001A>C
NR_174629.1:n.2946A>C
NR_174630.1:n.2982A>C
NR_174631.1:n.2927A>C
NR_174632.1:n.3016A>C