Canonical Allele Identifier: CA383185524
Community Standard Title: NM_152713.5(STT3A):c.1213C>T (p.Arg405Cys)
Gene: STT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.125612595C>T , CM000673.2:g.125612595C>T GRCh38
NC_000011.9:g.125482490C>T , CM000673.1:g.125482490C>T GRCh37
NC_000011.8:g.124987700C>T NCBI36
NG_042806.1:g.24801C>T

Transcript Alleles

HGVS Amino-acid Change
NM_152713.5:c.1213C>T MANE Select NP_689926.1:p.Arg405Cys
ENST00000392708.9:c.1213C>T MANE Select ENSP00000376472.3:p.Arg405Cys
NM_001278503.1:c.1213C>T NP_001265432.1:p.Arg405Cys
NM_001278503.2:c.1213C>T NP_001265432.1:p.Arg405Cys
NM_001278504.1:c.937C>T NP_001265433.1:p.Arg313Cys
NM_001278504.2:c.937C>T NP_001265433.1:p.Arg313Cys
NM_152713.4:c.1213C>T NP_689926.1:p.Arg405Cys
ENST00000392708.8:c.1213C>T ENSP00000376472.3:p.Arg405Cys
ENST00000524639.5:n.267C>T
ENST00000526726.1:c.348C>T
ENST00000529196.5:c.1213C>T ENSP00000436962.1:p.Arg405Cys
ENST00000531491.5:c.937C>T ENSP00000432820.1:p.Arg313Cys
ENST00000531599.1:n.669C>T
ENST00000649491.1:c.1213C>T ENSP00000497336.1:p.Arg405Cys
XM_011542807.1:c.1213C>T XP_011541109.1:p.Arg405Cys
XM_011542807.3:c.1213C>T XP_011541109.1:p.Arg405Cys
XR_001747860.2:n.1391C>T