Canonical Allele Identifier: CA467224144

Gene: AK1

Linked Data

• dbSNP Id: rs1327412878
• gnomAD v2: 9-130630699-C-T
• MyVariant Identifiers: chr9:g.130630699C>T (hg19) ; chr9:g.127868420C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868420C>T , CM000671.2:g.127868420C>T	GRCh38
NC_000009.11:g.130630699C>T , CM000671.1:g.130630699C>T	GRCh37
NC_000009.10:g.129670520C>T	NCBI36
NG_011792.1:g.14324G>A
NG_011792.2:g.14324G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.917G>A
ENST00000643029.1:c.*2092G>A	ENSP00000496586.1:n.*2092G>A
ENST00000643338.1:c.*1981G>A	ENSP00000495890.1:n.*1981G>A
ENST00000644144.2:c.417G>A MANE Select	ENSP00000494600.1:p.Val139=
ENST00000645007.1:c.*2341G>A	ENSP00000494773.1:n.*2341G>A
ENST00000646171.1:c.*450G>A	ENSP00000495484.1:n.*450G>A
ENST00000223836.10:c.465G>A	ENSP00000223836.10:p.Val155=
ENST00000373156.5:c.417G>A	ENSP00000362249.1:p.Val139=
ENST00000373176.5:c.417G>A	ENSP00000362271.1:p.Val139=
ENST00000413016.5:c.239G>A
ENST00000550143.5:c.197G>A	ENSP00000449130.1:n.197G>A
NM_000476.2:c.417G>A	NP_000467.1:p.Val139=
XM_005251786.2:c.465G>A	XP_005251843.1:p.Val155=
XM_011518348.1:c.417G>A	XP_011516650.1:p.Val139=
XM_011518349.1:c.237G>A	XP_011516651.1:p.Val79=
NM_001318121.1:c.417G>A	NP_001305050.1:p.Val139=
NM_001318122.1:c.465G>A	NP_001305051.1:p.Val155=
XM_017014428.1:c.417G>A	XP_016869917.1:p.Val139=
XM_024447439.1:c.396G>A	XP_024303207.1:p.Val132=
XM_024447440.1:c.237G>A	XP_024303208.1:p.Val79=
NM_001318122.2:c.465G>A	NP_001305051.1:p.Val155=
NM_000476.3:c.417G>A MANE Select	NP_000467.1:p.Val139=
NR_174625.1:n.3736G>A
NR_174626.1:n.3579G>A
NR_174627.1:n.3616G>A
NR_174628.1:n.2994G>A
NR_174629.1:n.2939G>A
NR_174630.1:n.2975G>A
NR_174631.1:n.2920G>A
NR_174632.1:n.3009G>A