Canonical Allele Identifier: CA467224212

Gene: AK1

Linked Data

• gnomAD v4: 9-127868435-C-T
• MyVariant Identifiers: chr9:g.130630714C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868435C>T , CM000671.2:g.127868435C>T	GRCh38
NC_000009.11:g.130630714C>T , CM000671.1:g.130630714C>T	GRCh37
NC_000009.10:g.129670535C>T	NCBI36
NG_011792.1:g.14309G>A
NG_011792.2:g.14309G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.902G>A
ENST00000643029.1:c.*2077G>A	ENSP00000496586.1:n.*2077G>A
ENST00000643338.1:c.*1966G>A	ENSP00000495890.1:n.*1966G>A
ENST00000644144.2:c.402G>A MANE Select	ENSP00000494600.1:p.Glu134=
ENST00000645007.1:c.*2326G>A	ENSP00000494773.1:n.*2326G>A
ENST00000646171.1:c.*435G>A	ENSP00000495484.1:n.*435G>A
ENST00000223836.10:c.450G>A	ENSP00000223836.10:p.Glu150=
ENST00000373156.5:c.402G>A	ENSP00000362249.1:p.Glu134=
ENST00000373176.5:c.402G>A	ENSP00000362271.1:p.Glu134=
ENST00000413016.5:c.224G>A
ENST00000550143.5:c.182G>A	ENSP00000449130.1:n.182G>A
NM_000476.2:c.402G>A	NP_000467.1:p.Glu134=
XM_005251786.2:c.450G>A	XP_005251843.1:p.Glu150=
XM_011518348.1:c.402G>A	XP_011516650.1:p.Glu134=
XM_011518349.1:c.222G>A	XP_011516651.1:p.Glu74=
NM_001318121.1:c.402G>A	NP_001305050.1:p.Glu134=
NM_001318122.1:c.450G>A	NP_001305051.1:p.Glu150=
XM_017014428.1:c.402G>A	XP_016869917.1:p.Glu134=
XM_024447439.1:c.381G>A	XP_024303207.1:p.Glu127=
XM_024447440.1:c.222G>A	XP_024303208.1:p.Glu74=
NM_001318122.2:c.450G>A	NP_001305051.1:p.Glu150=
NM_000476.3:c.402G>A MANE Select	NP_000467.1:p.Glu134=
NR_174625.1:n.3721G>A
NR_174626.1:n.3564G>A
NR_174627.1:n.3601G>A
NR_174628.1:n.2979G>A
NR_174629.1:n.2924G>A
NR_174630.1:n.2960G>A
NR_174631.1:n.2905G>A
NR_174632.1:n.2994G>A