Canonical Allele Identifier: CA374947610

Gene: AK1

Linked Data

• dbSNP Id: rs1166477539
• gnomAD v2: 9-130630739-G-T
• gnomAD v4: 9-127868460-G-T
• MyVariant Identifiers: chr9:g.130630739G>T (hg19) ; chr9:g.127868460G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868460G>T , CM000671.2:g.127868460G>T	GRCh38
NC_000009.11:g.130630739G>T , CM000671.1:g.130630739G>T	GRCh37
NC_000009.10:g.129670560G>T	NCBI36
NG_011792.1:g.14284C>A
NG_011792.2:g.14284C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.877C>A
ENST00000643029.1:c.*2052C>A	ENSP00000496586.1:n.*2052C>A
ENST00000643338.1:c.*1941C>A	ENSP00000495890.1:n.*1941C>A
ENST00000644144.2:c.377C>A MANE Select	ENSP00000494600.1:p.Thr126Asn
ENST00000645007.1:c.*2301C>A	ENSP00000494773.1:n.*2301C>A
ENST00000646171.1:c.*410C>A	ENSP00000495484.1:n.*410C>A
ENST00000223836.10:c.425C>A	ENSP00000223836.10:p.Thr142Asn
ENST00000373156.5:c.377C>A	ENSP00000362249.1:p.Thr126Asn
ENST00000373176.5:c.377C>A	ENSP00000362271.1:p.Thr126Asn
ENST00000413016.5:c.199C>A
ENST00000550143.5:c.157C>A	ENSP00000449130.1:n.157C>A
NM_000476.2:c.377C>A	NP_000467.1:p.Thr126Asn
XM_005251786.2:c.425C>A	XP_005251843.1:p.Thr142Asn
XM_011518348.1:c.377C>A	XP_011516650.1:p.Thr126Asn
XM_011518349.1:c.197C>A	XP_011516651.1:p.Thr66Asn
NM_001318121.1:c.377C>A	NP_001305050.1:p.Thr126Asn
NM_001318122.1:c.425C>A	NP_001305051.1:p.Thr142Asn
XM_017014428.1:c.377C>A	XP_016869917.1:p.Thr126Asn
XM_024447439.1:c.356C>A	XP_024303207.1:p.Thr119Asn
XM_024447440.1:c.197C>A	XP_024303208.1:p.Thr66Asn
NM_001318122.2:c.425C>A	NP_001305051.1:p.Thr142Asn
NM_000476.3:c.377C>A MANE Select	NP_000467.1:p.Thr126Asn
NR_174625.1:n.3696C>A
NR_174626.1:n.3539C>A
NR_174627.1:n.3576C>A
NR_174628.1:n.2954C>A
NR_174629.1:n.2899C>A
NR_174630.1:n.2935C>A
NR_174631.1:n.2880C>A
NR_174632.1:n.2969C>A