Canonical Allele Identifier: CA467224308

Gene: AK1

Linked Data

• gnomAD v4: 9-127868455-G-T
• MyVariant Identifiers: chr9:g.130630734G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868455G>T , CM000671.2:g.127868455G>T	GRCh38
NC_000009.11:g.130630734G>T , CM000671.1:g.130630734G>T	GRCh37
NC_000009.10:g.129670555G>T	NCBI36
NG_011792.1:g.14289C>A
NG_011792.2:g.14289C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.882C>A
ENST00000643029.1:c.*2057C>A	ENSP00000496586.1:n.*2057C>A
ENST00000643338.1:c.*1946C>A	ENSP00000495890.1:n.*1946C>A
ENST00000644144.2:c.382C>A MANE Select	ENSP00000494600.1:p.Arg128=
ENST00000645007.1:c.*2306C>A	ENSP00000494773.1:n.*2306C>A
ENST00000646171.1:c.*415C>A	ENSP00000495484.1:n.*415C>A
ENST00000223836.10:c.430C>A	ENSP00000223836.10:p.Arg144=
ENST00000373156.5:c.382C>A	ENSP00000362249.1:p.Arg128=
ENST00000373176.5:c.382C>A	ENSP00000362271.1:p.Arg128=
ENST00000413016.5:c.204C>A
ENST00000550143.5:c.162C>A	ENSP00000449130.1:n.162C>A
NM_000476.2:c.382C>A	NP_000467.1:p.Arg128=
XM_005251786.2:c.430C>A	XP_005251843.1:p.Arg144=
XM_011518348.1:c.382C>A	XP_011516650.1:p.Arg128=
XM_011518349.1:c.202C>A	XP_011516651.1:p.Arg68=
NM_001318121.1:c.382C>A	NP_001305050.1:p.Arg128=
NM_001318122.1:c.430C>A	NP_001305051.1:p.Arg144=
XM_017014428.1:c.382C>A	XP_016869917.1:p.Arg128=
XM_024447439.1:c.361C>A	XP_024303207.1:p.Arg121=
XM_024447440.1:c.202C>A	XP_024303208.1:p.Arg68=
NM_001318122.2:c.430C>A	NP_001305051.1:p.Arg144=
NM_000476.3:c.382C>A MANE Select	NP_000467.1:p.Arg128=
NR_174625.1:n.3701C>A
NR_174626.1:n.3544C>A
NR_174627.1:n.3581C>A
NR_174628.1:n.2959C>A
NR_174629.1:n.2904C>A
NR_174630.1:n.2940C>A
NR_174631.1:n.2885C>A
NR_174632.1:n.2974C>A