Canonical Allele Identifier: CA6208911

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.82933403A>G , CM000673.2:g.82933403A>G GRCh38
NC_000011.9:g.82644445A>G , CM000673.1:g.82644445A>G GRCh37
NC_000011.8:g.82322093A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_145018.4:c.2065A>G (DDIAS) MANE Select NP_659455.3:p.Ile689Val
ENST00000533655.6:c.2065A>G (DDIAS) MANE Select ENSP00000435421.1:p.Ile689Val
NM_001363481.1:c.2065A>G (DDIAS) NP_001350410.1:p.Ile689Val
NM_001363481.2:c.2065A>G (DDIAS) NP_001350410.1:p.Ile689Val
NM_145018.3:c.2065A>G (DDIAS) NP_659455.3:p.Ile689Val
ENST00000329143.4:c.2065A>G (DDIAS) ENSP00000329930.4:p.Ile689Val
ENST00000525361.5:c.511+1554A>G (DDIAS) ENSP00000435424.1:n.511+1554A>G
ENST00000528759.5:c.*1584A>G (DDIAS) ENSP00000431234.1:n.*1584A>G
ENST00000533655.5:c.2065A>G (DDIAS) ENSP00000435421.1:p.Ile689Val
ENST00000534396.5:c.-148+23662T>C (PRCP) ENSP00000432506.1:n.-148+23662T>C
XM_011544835.1:c.2065A>G (DDIAS) XP_011543137.1:p.Ile689Val
XM_011544836.1:c.2065A>G (DDIAS) XP_011543138.1:p.Ile689Val
XM_011544836.2:c.2065A>G (DDIAS) XP_011543138.1:p.Ile689Val
XM_011544837.1:c.1162A>G (DDIAS) XP_011543139.1:p.Ile388Val
XM_011544838.1:c.1162A>G (DDIAS) XP_011543140.1:p.Ile388Val
XM_024448400.1:c.2065A>G (DDIAS) XP_024304168.1:p.Ile689Val