Canonical Allele Identifier: CA383183719
Community Standard Title: NM_152713.5(STT3A):c.479G>A (p.Arg160Gln)
Gene: STT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.125604218G>A , CM000673.2:g.125604218G>A GRCh38
NC_000011.9:g.125474113G>A , CM000673.1:g.125474113G>A GRCh37
NC_000011.8:g.124979323G>A NCBI36
NG_042806.1:g.16424G>A

Transcript Alleles

HGVS Amino-acid Change
NM_152713.5:c.479G>A MANE Select NP_689926.1:p.Arg160Gln
ENST00000392708.9:c.479G>A MANE Select ENSP00000376472.3:p.Arg160Gln
NM_001278503.1:c.479G>A NP_001265432.1:p.Arg160Gln
NM_001278503.2:c.479G>A NP_001265432.1:p.Arg160Gln
NM_001278504.1:c.203G>A NP_001265433.1:p.Arg68Gln
NM_001278504.2:c.203G>A NP_001265433.1:p.Arg68Gln
NM_152713.4:c.479G>A NP_689926.1:p.Arg160Gln
ENST00000392708.8:c.479G>A ENSP00000376472.3:p.Arg160Gln
ENST00000526213.5:n.254G>A
ENST00000527456.1:n.180G>A
ENST00000529196.5:c.479G>A ENSP00000436962.1:p.Arg160Gln
ENST00000531491.5:c.203G>A ENSP00000432820.1:p.Arg68Gln
ENST00000534472.5:n.614G>A
ENST00000649491.1:c.479G>A ENSP00000497336.1:p.Arg160Gln
XM_011542807.1:c.479G>A XP_011541109.1:p.Arg160Gln
XM_011542807.3:c.479G>A XP_011541109.1:p.Arg160Gln
XM_011542808.1:c.479G>A XP_011541110.1:p.Arg160Gln
XR_001747860.2:n.586G>A