Canonical Allele Identifier: CA467223535

Gene: AK1

Linked Data

• gnomAD v4: 9-127868378-A-G
• MyVariant Identifiers: chr9:g.130630657A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868378A>G , CM000671.2:g.127868378A>G	GRCh38
NC_000009.11:g.130630657A>G , CM000671.1:g.130630657A>G	GRCh37
NC_000009.10:g.129670478A>G	NCBI36
NG_011792.1:g.14366T>C
NG_011792.2:g.14366T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.959T>C
ENST00000643029.1:c.*2134T>C	ENSP00000496586.1:n.*2134T>C
ENST00000643338.1:c.*2023T>C	ENSP00000495890.1:n.*2023T>C
ENST00000644144.2:c.459T>C MANE Select	ENSP00000494600.1:p.Tyr153=
ENST00000645007.1:c.*2383T>C	ENSP00000494773.1:n.*2383T>C
ENST00000646171.1:c.*492T>C	ENSP00000495484.1:n.*492T>C
ENST00000223836.10:c.507T>C	ENSP00000223836.10:p.Tyr169=
ENST00000373156.5:c.459T>C	ENSP00000362249.1:p.Tyr153=
ENST00000373176.5:c.459T>C	ENSP00000362271.1:p.Tyr153=
ENST00000413016.5:c.281T>C
ENST00000550143.5:c.239T>C	ENSP00000449130.1:n.239T>C
NM_000476.2:c.459T>C	NP_000467.1:p.Tyr153=
XM_005251786.2:c.507T>C	XP_005251843.1:p.Tyr169=
XM_011518348.1:c.459T>C	XP_011516650.1:p.Tyr153=
XM_011518349.1:c.279T>C	XP_011516651.1:p.Tyr93=
NM_001318121.1:c.459T>C	NP_001305050.1:p.Tyr153=
NM_001318122.1:c.507T>C	NP_001305051.1:p.Tyr169=
XM_017014428.1:c.459T>C	XP_016869917.1:p.Tyr153=
XM_024447439.1:c.438T>C	XP_024303207.1:p.Tyr146=
XM_024447440.1:c.279T>C	XP_024303208.1:p.Tyr93=
NM_001318122.2:c.507T>C	NP_001305051.1:p.Tyr169=
NM_000476.3:c.459T>C MANE Select	NP_000467.1:p.Tyr153=
NR_174625.1:n.3778T>C
NR_174626.1:n.3621T>C
NR_174627.1:n.3658T>C
NR_174628.1:n.3036T>C
NR_174629.1:n.2981T>C
NR_174630.1:n.3017T>C
NR_174631.1:n.2962T>C
NR_174632.1:n.3051T>C