Canonical Allele Identifier: CA6349031
Community Standard Title: NM_152713.5(STT3A):c.1214G>A (p.Arg405His)
Gene: STT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.125612596G>A , CM000673.2:g.125612596G>A GRCh38
NC_000011.9:g.125482491G>A , CM000673.1:g.125482491G>A GRCh37
NC_000011.8:g.124987701G>A NCBI36
NG_042806.1:g.24802G>A

Transcript Alleles

HGVS Amino-acid Change
NM_152713.5:c.1214G>A MANE Select NP_689926.1:p.Arg405His
ENST00000392708.9:c.1214G>A MANE Select ENSP00000376472.3:p.Arg405His
NM_001278503.1:c.1214G>A NP_001265432.1:p.Arg405His
NM_001278503.2:c.1214G>A NP_001265432.1:p.Arg405His
NM_001278504.1:c.938G>A NP_001265433.1:p.Arg313His
NM_001278504.2:c.938G>A NP_001265433.1:p.Arg313His
NM_152713.4:c.1214G>A NP_689926.1:p.Arg405His
ENST00000392708.8:c.1214G>A ENSP00000376472.3:p.Arg405His
ENST00000524639.5:n.268G>A
ENST00000526726.1:c.349G>A
ENST00000529196.5:c.1214G>A ENSP00000436962.1:p.Arg405His
ENST00000531491.5:c.938G>A ENSP00000432820.1:p.Arg313His
ENST00000531599.1:n.670G>A
ENST00000649491.1:c.1214G>A ENSP00000497336.1:p.Arg405His
XM_011542807.1:c.1214G>A XP_011541109.1:p.Arg405His
XM_011542807.3:c.1214G>A XP_011541109.1:p.Arg405His
XR_001747860.2:n.1392G>A