Canonical Allele Identifier: CA467223442
Gene: AK1 HGNC NCBI

Linked Data

dbSNP Id: rs1829298256
MyVariant Identifiers: chr9:g.130630636G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868357G>A , CM000671.2:g.127868357G>A GRCh38
NC_000009.11:g.130630636G>A , CM000671.1:g.130630636G>A GRCh37
NC_000009.10:g.129670457G>A NCBI36
NG_011792.1:g.14387C>T
NG_011792.2:g.14387C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000476274.7:n.980C>T
ENST00000643029.1:c.*2155C>T ENSP00000496586.1:n.*2155C>T
ENST00000643338.1:c.*2044C>T ENSP00000495890.1:n.*2044C>T
ENST00000644144.2:c.480C>T MANE Select ENSP00000494600.1:p.Val160=
ENST00000645007.1:c.*2404C>T ENSP00000494773.1:n.*2404C>T
ENST00000646171.1:c.*513C>T ENSP00000495484.1:n.*513C>T
ENST00000223836.10:c.528C>T ENSP00000223836.10:p.Val176=
ENST00000373156.5:c.480C>T ENSP00000362249.1:p.Val160=
ENST00000373176.5:c.480C>T ENSP00000362271.1:p.Val160=
ENST00000413016.5:c.302C>T
ENST00000550143.5:c.260C>T ENSP00000449130.1:n.260C>T
NM_000476.2:c.480C>T NP_000467.1:p.Val160=
XM_005251786.2:c.528C>T XP_005251843.1:p.Val176=
XM_011518348.1:c.480C>T XP_011516650.1:p.Val160=
XM_011518349.1:c.300C>T XP_011516651.1:p.Val100=
NM_001318121.1:c.480C>T NP_001305050.1:p.Val160=
NM_001318122.1:c.528C>T NP_001305051.1:p.Val176=
XM_017014428.1:c.480C>T XP_016869917.1:p.Val160=
XM_024447439.1:c.459C>T XP_024303207.1:p.Val153=
XM_024447440.1:c.300C>T XP_024303208.1:p.Val100=
NM_001318122.2:c.528C>T NP_001305051.1:p.Val176=
NM_000476.3:c.480C>T MANE Select NP_000467.1:p.Val160=
NR_174625.1:n.3799C>T
NR_174626.1:n.3642C>T
NR_174627.1:n.3679C>T
NR_174628.1:n.3057C>T
NR_174629.1:n.3002C>T
NR_174630.1:n.3038C>T
NR_174631.1:n.2983C>T
NR_174632.1:n.3072C>T