Canonical Allele Identifier: CA374947227
Gene: AK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.127868399G>C , CM000671.2:g.127868399G>C GRCh38
NC_000009.11:g.130630678G>C , CM000671.1:g.130630678G>C GRCh37
NC_000009.10:g.129670499G>C NCBI36
NG_011792.1:g.14345C>G
NG_011792.2:g.14345C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000476274.7:n.938C>G
ENST00000643029.1:c.*2113C>G ENSP00000496586.1:n.*2113C>G
ENST00000643338.1:c.*2002C>G ENSP00000495890.1:n.*2002C>G
ENST00000644144.2:c.438C>G MANE Select ENSP00000494600.1:p.Ile146Met
ENST00000645007.1:c.*2362C>G ENSP00000494773.1:n.*2362C>G
ENST00000646171.1:c.*471C>G ENSP00000495484.1:n.*471C>G
ENST00000223836.10:c.486C>G ENSP00000223836.10:p.Ile162Met
ENST00000373156.5:c.438C>G ENSP00000362249.1:p.Ile146Met
ENST00000373176.5:c.438C>G ENSP00000362271.1:p.Ile146Met
ENST00000413016.5:c.260C>G
ENST00000550143.5:c.218C>G ENSP00000449130.1:n.218C>G
NM_000476.2:c.438C>G NP_000467.1:p.Ile146Met
XM_005251786.2:c.486C>G XP_005251843.1:p.Ile162Met
XM_011518348.1:c.438C>G XP_011516650.1:p.Ile146Met
XM_011518349.1:c.258C>G XP_011516651.1:p.Ile86Met
NM_001318121.1:c.438C>G NP_001305050.1:p.Ile146Met
NM_001318122.1:c.486C>G NP_001305051.1:p.Ile162Met
XM_017014428.1:c.438C>G XP_016869917.1:p.Ile146Met
XM_024447439.1:c.417C>G XP_024303207.1:p.Ile139Met
XM_024447440.1:c.258C>G XP_024303208.1:p.Ile86Met
NM_001318122.2:c.486C>G NP_001305051.1:p.Ile162Met
NM_000476.3:c.438C>G MANE Select NP_000467.1:p.Ile146Met
NR_174625.1:n.3757C>G
NR_174626.1:n.3600C>G
NR_174627.1:n.3637C>G
NR_174628.1:n.3015C>G
NR_174629.1:n.2960C>G
NR_174630.1:n.2996C>G
NR_174631.1:n.2941C>G
NR_174632.1:n.3030C>G