Canonical Allele Identifier: CA374947008

Gene: AK1

Linked Data

• gnomAD v4: 9-127868371-C-T
• MyVariant Identifiers: chr9:g.130630650C>T (hg19) ; chr9:g.127868371C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868371C>T , CM000671.2:g.127868371C>T	GRCh38
NC_000009.11:g.130630650C>T , CM000671.1:g.130630650C>T	GRCh37
NC_000009.10:g.129670471C>T	NCBI36
NG_011792.1:g.14373G>A
NG_011792.2:g.14373G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.966G>A
ENST00000643029.1:c.*2141G>A	ENSP00000496586.1:n.*2141G>A
ENST00000643338.1:c.*2030G>A	ENSP00000495890.1:n.*2030G>A
ENST00000644144.2:c.466G>A MANE Select	ENSP00000494600.1:p.Ala156Thr
ENST00000645007.1:c.*2390G>A	ENSP00000494773.1:n.*2390G>A
ENST00000646171.1:c.*499G>A	ENSP00000495484.1:n.*499G>A
ENST00000223836.10:c.514G>A	ENSP00000223836.10:p.Ala172Thr
ENST00000373156.5:c.466G>A	ENSP00000362249.1:p.Ala156Thr
ENST00000373176.5:c.466G>A	ENSP00000362271.1:p.Ala156Thr
ENST00000413016.5:c.288G>A
ENST00000550143.5:c.246G>A	ENSP00000449130.1:n.246G>A
NM_000476.2:c.466G>A	NP_000467.1:p.Ala156Thr
XM_005251786.2:c.514G>A	XP_005251843.1:p.Ala172Thr
XM_011518348.1:c.466G>A	XP_011516650.1:p.Ala156Thr
XM_011518349.1:c.286G>A	XP_011516651.1:p.Ala96Thr
NM_001318121.1:c.466G>A	NP_001305050.1:p.Ala156Thr
NM_001318122.1:c.514G>A	NP_001305051.1:p.Ala172Thr
XM_017014428.1:c.466G>A	XP_016869917.1:p.Ala156Thr
XM_024447439.1:c.445G>A	XP_024303207.1:p.Ala149Thr
XM_024447440.1:c.286G>A	XP_024303208.1:p.Ala96Thr
NM_001318122.2:c.514G>A	NP_001305051.1:p.Ala172Thr
NM_000476.3:c.466G>A MANE Select	NP_000467.1:p.Ala156Thr
NR_174625.1:n.3785G>A
NR_174626.1:n.3628G>A
NR_174627.1:n.3665G>A
NR_174628.1:n.3043G>A
NR_174629.1:n.2988G>A
NR_174630.1:n.3024G>A
NR_174631.1:n.2969G>A
NR_174632.1:n.3058G>A