Canonical Allele Identifier: CA467223501
Gene: AK1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr9:g.130630648G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868369G>A , CM000671.2:g.127868369G>A GRCh38
NC_000009.11:g.130630648G>A , CM000671.1:g.130630648G>A GRCh37
NC_000009.10:g.129670469G>A NCBI36
NG_011792.1:g.14375C>T
NG_011792.2:g.14375C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000476274.7:n.968C>T
ENST00000643029.1:c.*2143C>T ENSP00000496586.1:n.*2143C>T
ENST00000643338.1:c.*2032C>T ENSP00000495890.1:n.*2032C>T
ENST00000644144.2:c.468C>T MANE Select ENSP00000494600.1:p.Ala156=
ENST00000645007.1:c.*2392C>T ENSP00000494773.1:n.*2392C>T
ENST00000646171.1:c.*501C>T ENSP00000495484.1:n.*501C>T
ENST00000223836.10:c.516C>T ENSP00000223836.10:p.Ala172=
ENST00000373156.5:c.468C>T ENSP00000362249.1:p.Ala156=
ENST00000373176.5:c.468C>T ENSP00000362271.1:p.Ala156=
ENST00000413016.5:c.290C>T
ENST00000550143.5:c.248C>T ENSP00000449130.1:n.248C>T
NM_000476.2:c.468C>T NP_000467.1:p.Ala156=
XM_005251786.2:c.516C>T XP_005251843.1:p.Ala172=
XM_011518348.1:c.468C>T XP_011516650.1:p.Ala156=
XM_011518349.1:c.288C>T XP_011516651.1:p.Ala96=
NM_001318121.1:c.468C>T NP_001305050.1:p.Ala156=
NM_001318122.1:c.516C>T NP_001305051.1:p.Ala172=
XM_017014428.1:c.468C>T XP_016869917.1:p.Ala156=
XM_024447439.1:c.447C>T XP_024303207.1:p.Ala149=
XM_024447440.1:c.288C>T XP_024303208.1:p.Ala96=
NM_001318122.2:c.516C>T NP_001305051.1:p.Ala172=
NM_000476.3:c.468C>T MANE Select NP_000467.1:p.Ala156=
NR_174625.1:n.3787C>T
NR_174626.1:n.3630C>T
NR_174627.1:n.3667C>T
NR_174628.1:n.3045C>T
NR_174629.1:n.2990C>T
NR_174630.1:n.3026C>T
NR_174631.1:n.2971C>T
NR_174632.1:n.3060C>T