Canonical Allele Identifier: CA5253340

Gene: AK1

Linked Data

• ClinVar Variation Id: 2886526
• ClinVar RCV Id: RCV003719960
• dbSNP Id: rs770141221
• ExAC: 9:130630666 C / T
• gnomAD v2: 9-130630666-C-T
• gnomAD v3: 9-127868387-C-T
• gnomAD v4: 9-127868387-C-T
• MyVariant Identifiers: chr9:g.130630666C>T (hg19) ; chr9:g.127868387C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868387C>T , CM000671.2:g.127868387C>T	GRCh38
NC_000009.11:g.130630666C>T , CM000671.1:g.130630666C>T	GRCh37
NC_000009.10:g.129670487C>T	NCBI36
NG_011792.1:g.14357G>A
NG_011792.2:g.14357G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.950G>A
ENST00000643029.1:c.*2125G>A	ENSP00000496586.1:n.*2125G>A
ENST00000643338.1:c.*2014G>A	ENSP00000495890.1:n.*2014G>A
ENST00000644144.2:c.450G>A MANE Select	ENSP00000494600.1:p.Leu150=
ENST00000645007.1:c.*2374G>A	ENSP00000494773.1:n.*2374G>A
ENST00000646171.1:c.*483G>A	ENSP00000495484.1:n.*483G>A
ENST00000223836.10:c.498G>A	ENSP00000223836.10:p.Leu166=
ENST00000373156.5:c.450G>A	ENSP00000362249.1:p.Leu150=
ENST00000373176.5:c.450G>A	ENSP00000362271.1:p.Leu150=
ENST00000413016.5:c.272G>A
ENST00000550143.5:c.230G>A	ENSP00000449130.1:n.230G>A
NM_000476.2:c.450G>A	NP_000467.1:p.Leu150=
XM_005251786.2:c.498G>A	XP_005251843.1:p.Leu166=
XM_011518348.1:c.450G>A	XP_011516650.1:p.Leu150=
XM_011518349.1:c.270G>A	XP_011516651.1:p.Leu90=
NM_001318121.1:c.450G>A	NP_001305050.1:p.Leu150=
NM_001318122.1:c.498G>A	NP_001305051.1:p.Leu166=
XM_017014428.1:c.450G>A	XP_016869917.1:p.Leu150=
XM_024447439.1:c.429G>A	XP_024303207.1:p.Leu143=
XM_024447440.1:c.270G>A	XP_024303208.1:p.Leu90=
NM_001318122.2:c.498G>A	NP_001305051.1:p.Leu166=
NM_000476.3:c.450G>A MANE Select	NP_000467.1:p.Leu150=
NR_174625.1:n.3769G>A
NR_174626.1:n.3612G>A
NR_174627.1:n.3649G>A
NR_174628.1:n.3027G>A
NR_174629.1:n.2972G>A
NR_174630.1:n.3008G>A
NR_174631.1:n.2953G>A
NR_174632.1:n.3042G>A