Canonical Allele Identifier: CA374946967

Gene: AK1

Linked Data

• dbSNP Id: rs1213321936
• gnomAD v2: 9-130630641-G-A
• gnomAD v3: 9-127868362-G-A
• gnomAD v4: 9-127868362-G-A
• MyVariant Identifiers: chr9:g.130630641G>A (hg19) ; chr9:g.127868362G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868362G>A , CM000671.2:g.127868362G>A	GRCh38
NC_000009.11:g.130630641G>A , CM000671.1:g.130630641G>A	GRCh37
NC_000009.10:g.129670462G>A	NCBI36
NG_011792.1:g.14382C>T
NG_011792.2:g.14382C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000476274.7:n.975C>T
ENST00000643029.1:c.*2150C>T	ENSP00000496586.1:n.*2150C>T
ENST00000643338.1:c.*2039C>T	ENSP00000495890.1:n.*2039C>T
ENST00000644144.2:c.475C>T MANE Select	ENSP00000494600.1:p.Pro159Ser
ENST00000645007.1:c.*2399C>T	ENSP00000494773.1:n.*2399C>T
ENST00000646171.1:c.*508C>T	ENSP00000495484.1:n.*508C>T
ENST00000223836.10:c.523C>T	ENSP00000223836.10:p.Pro175Ser
ENST00000373156.5:c.475C>T	ENSP00000362249.1:p.Pro159Ser
ENST00000373176.5:c.475C>T	ENSP00000362271.1:p.Pro159Ser
ENST00000413016.5:c.297C>T
ENST00000550143.5:c.255C>T	ENSP00000449130.1:n.255C>T
NM_000476.2:c.475C>T	NP_000467.1:p.Pro159Ser
XM_005251786.2:c.523C>T	XP_005251843.1:p.Pro175Ser
XM_011518348.1:c.475C>T	XP_011516650.1:p.Pro159Ser
XM_011518349.1:c.295C>T	XP_011516651.1:p.Pro99Ser
NM_001318121.1:c.475C>T	NP_001305050.1:p.Pro159Ser
NM_001318122.1:c.523C>T	NP_001305051.1:p.Pro175Ser
XM_017014428.1:c.475C>T	XP_016869917.1:p.Pro159Ser
XM_024447439.1:c.454C>T	XP_024303207.1:p.Pro152Ser
XM_024447440.1:c.295C>T	XP_024303208.1:p.Pro99Ser
NM_001318122.2:c.523C>T	NP_001305051.1:p.Pro175Ser
NM_000476.3:c.475C>T MANE Select	NP_000467.1:p.Pro159Ser
NR_174625.1:n.3794C>T
NR_174626.1:n.3637C>T
NR_174627.1:n.3674C>T
NR_174628.1:n.3052C>T
NR_174629.1:n.2997C>T
NR_174630.1:n.3033C>T
NR_174631.1:n.2978C>T
NR_174632.1:n.3067C>T