Canonical Allele Identifier: CA6348786
Community Standard Title: NM_152713.5(STT3A):c.251T>C (p.Ile84Thr)
Gene: STT3A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.125602404T>C , CM000673.2:g.125602404T>C GRCh38
NC_000011.9:g.125472299T>C , CM000673.1:g.125472299T>C GRCh37
NC_000011.8:g.124977509T>C NCBI36
NG_042806.1:g.14610T>C

Transcript Alleles

HGVS Amino-acid Change
NM_152713.5:c.251T>C MANE Select NP_689926.1:p.Ile84Thr
ENST00000392708.9:c.251T>C MANE Select ENSP00000376472.3:p.Ile84Thr
NM_001278503.1:c.251T>C NP_001265432.1:p.Ile84Thr
NM_001278503.2:c.251T>C NP_001265432.1:p.Ile84Thr
NM_001278504.1:c.-26T>C NP_001265433.1:n.-26T>C
NM_001278504.2:c.-26T>C NP_001265433.1:n.-26T>C
NM_152713.4:c.251T>C NP_689926.1:p.Ile84Thr
ENST00000392708.8:c.251T>C ENSP00000376472.3:p.Ile84Thr
ENST00000525652.5:c.251T>C ENSP00000435810.1:p.Ile84Thr
ENST00000527606.5:c.251T>C ENSP00000436558.1:p.Ile84Thr
ENST00000529196.5:c.251T>C ENSP00000436962.1:p.Ile84Thr
ENST00000529886.1:c.251T>C ENSP00000432912.1:p.Ile84Thr
ENST00000531491.5:c.-26T>C ENSP00000432820.1:n.-26T>C
ENST00000534472.5:n.386T>C
ENST00000649491.1:c.251T>C ENSP00000497336.1:p.Ile84Thr
XM_011542807.1:c.251T>C XP_011541109.1:p.Ile84Thr
XM_011542807.3:c.251T>C XP_011541109.1:p.Ile84Thr
XM_011542808.1:c.251T>C XP_011541110.1:p.Ile84Thr
XR_001747860.2:n.358T>C