Canonical Allele Identifier: CA374947598

Gene: AK1

Linked Data

• dbSNP Id: rs1461769427
• gnomAD v2: 9-130630737-G-A
• MyVariant Identifiers: chr9:g.130630737G>A (hg19) ; chr9:g.127868458G>A (hg38)
• PubMed: PMID:25363768

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.127868458G>A , CM000671.2:g.127868458G>A	GRCh38
NC_000009.11:g.130630737G>A , CM000671.1:g.130630737G>A	GRCh37
NC_000009.10:g.129670558G>A	NCBI36
NG_011792.1:g.14286C>T
NG_011792.2:g.14286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000476274.7:n.879C>T
ENST00000643029.1:c.*2054C>T	ENSP00000496586.1:n.*2054C>T
ENST00000643338.1:c.*1943C>T	ENSP00000495890.1:n.*1943C>T
ENST00000644144.2:c.379C>T MANE Select	ENSP00000494600.1:p.Gln127Ter
ENST00000645007.1:c.*2303C>T	ENSP00000494773.1:n.*2303C>T
ENST00000646171.1:c.*412C>T	ENSP00000495484.1:n.*412C>T
ENST00000223836.10:c.427C>T	ENSP00000223836.10:p.Gln143Ter
ENST00000373156.5:c.379C>T	ENSP00000362249.1:p.Gln127Ter
ENST00000373176.5:c.379C>T	ENSP00000362271.1:p.Gln127Ter
ENST00000413016.5:c.201C>T
ENST00000550143.5:c.159C>T	ENSP00000449130.1:n.159C>T
NM_000476.2:c.379C>T	NP_000467.1:p.Gln127Ter
XM_005251786.2:c.427C>T	XP_005251843.1:p.Gln143Ter
XM_011518348.1:c.379C>T	XP_011516650.1:p.Gln127Ter
XM_011518349.1:c.199C>T	XP_011516651.1:p.Gln67Ter
NM_001318121.1:c.379C>T	NP_001305050.1:p.Gln127Ter
NM_001318122.1:c.427C>T	NP_001305051.1:p.Gln143Ter
XM_017014428.1:c.379C>T	XP_016869917.1:p.Gln127Ter
XM_024447439.1:c.358C>T	XP_024303207.1:p.Gln120Ter
XM_024447440.1:c.199C>T	XP_024303208.1:p.Gln67Ter
NM_001318122.2:c.427C>T	NP_001305051.1:p.Gln143Ter
NM_000476.3:c.379C>T MANE Select	NP_000467.1:p.Gln127Ter
NR_174625.1:n.3698C>T
NR_174626.1:n.3541C>T
NR_174627.1:n.3578C>T
NR_174628.1:n.2956C>T
NR_174629.1:n.2901C>T
NR_174630.1:n.2937C>T
NR_174631.1:n.2882C>T
NR_174632.1:n.2971C>T