Canonical Allele Identifier: CA5253346

Gene: AK1

Linked Data

• ClinVar Variation Id: 2919826
• ClinVar RCV Id: RCV003736054
• dbSNP Id: rs766170104
• ExAC: 9:130630708 G / A
• gnomAD v2: 9-130630708-G-A
• gnomAD v3: 9-127868429-G-A
• gnomAD v4: 9-127868429-G-A
• MyVariant Identifiers: chr9:g.130630708G>A (hg19) ; chr9:g.127868429G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868429G>A , CM000671.2:g.127868429G>A	GRCh38
NC_000009.11:g.130630708G>A , CM000671.1:g.130630708G>A	GRCh37
NC_000009.10:g.129670529G>A	NCBI36
NG_011792.1:g.14315C>T
NG_011792.2:g.14315C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.908C>T
ENST00000643029.1:c.*2083C>T	ENSP00000496586.1:n.*2083C>T
ENST00000643338.1:c.*1972C>T	ENSP00000495890.1:n.*1972C>T
ENST00000644144.2:c.408C>T MANE Select	ENSP00000494600.1:p.Ser136=
ENST00000645007.1:c.*2332C>T	ENSP00000494773.1:n.*2332C>T
ENST00000646171.1:c.*441C>T	ENSP00000495484.1:n.*441C>T
ENST00000223836.10:c.456C>T	ENSP00000223836.10:p.Ser152=
ENST00000373156.5:c.408C>T	ENSP00000362249.1:p.Ser136=
ENST00000373176.5:c.408C>T	ENSP00000362271.1:p.Ser136=
ENST00000413016.5:c.230C>T
ENST00000550143.5:c.188C>T	ENSP00000449130.1:n.188C>T
NM_000476.2:c.408C>T	NP_000467.1:p.Ser136=
XM_005251786.2:c.456C>T	XP_005251843.1:p.Ser152=
XM_011518348.1:c.408C>T	XP_011516650.1:p.Ser136=
XM_011518349.1:c.228C>T	XP_011516651.1:p.Ser76=
NM_001318121.1:c.408C>T	NP_001305050.1:p.Ser136=
NM_001318122.1:c.456C>T	NP_001305051.1:p.Ser152=
XM_017014428.1:c.408C>T	XP_016869917.1:p.Ser136=
XM_024447439.1:c.387C>T	XP_024303207.1:p.Ser129=
XM_024447440.1:c.228C>T	XP_024303208.1:p.Ser76=
NM_001318122.2:c.456C>T	NP_001305051.1:p.Ser152=
NM_000476.3:c.408C>T MANE Select	NP_000467.1:p.Ser136=
NR_174625.1:n.3727C>T
NR_174626.1:n.3570C>T
NR_174627.1:n.3607C>T
NR_174628.1:n.2985C>T
NR_174629.1:n.2930C>T
NR_174630.1:n.2966C>T
NR_174631.1:n.2911C>T
NR_174632.1:n.3000C>T