Canonical Allele Identifier: CA383185522
Community Standard Title: NM_152713.5(STT3A):c.1213C>A (p.Arg405Ser)
Gene: STT3A HGNC NCBI

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
NM_152713.5:c.1213C>A MANE Select NP_689926.1:p.Arg405Ser
ENST00000392708.9:c.1213C>A MANE Select ENSP00000376472.3:p.Arg405Ser
NM_001278503.1:c.1213C>A NP_001265432.1:p.Arg405Ser
NM_001278503.2:c.1213C>A NP_001265432.1:p.Arg405Ser
NM_001278504.1:c.937C>A NP_001265433.1:p.Arg313Ser
NM_001278504.2:c.937C>A NP_001265433.1:p.Arg313Ser
NM_152713.4:c.1213C>A NP_689926.1:p.Arg405Ser
ENST00000392708.8:c.1213C>A ENSP00000376472.3:p.Arg405Ser
ENST00000524639.5:n.267C>A
ENST00000526726.1:c.348C>A
ENST00000529196.5:c.1213C>A ENSP00000436962.1:p.Arg405Ser
ENST00000531491.5:c.937C>A ENSP00000432820.1:p.Arg313Ser
ENST00000531599.1:n.669C>A
ENST00000649491.1:c.1213C>A ENSP00000497336.1:p.Arg405Ser
XM_011542807.1:c.1213C>A XP_011541109.1:p.Arg405Ser
XM_011542807.3:c.1213C>A XP_011541109.1:p.Arg405Ser
XR_001747860.2:n.1391C>A