Canonical Allele Identifier: CA385411906
Community Standard Title: NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)
Gene: STAC3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.57244604G>A , CM000674.2:g.57244604G>A GRCh38
NC_000012.11:g.57638387G>A , CM000674.1:g.57638387G>A GRCh37
NC_000012.10:g.55924654G>A NCBI36
NG_033835.1:g.11590C>T

Transcript Alleles

HGVS Amino-acid Change
NM_145064.3:c.739C>T MANE Select NP_659501.1:p.Gln247Ter
ENST00000332782.7:c.739C>T MANE Select ENSP00000329200.2:p.Gln247Ter
NM_001286256.1:c.622C>T NP_001273185.1:p.Gln208Ter
NM_001286256.2:c.622C>T NP_001273185.1:p.Gln208Ter
NM_001286257.1:c.181C>T NP_001273186.1:p.Gln61Ter
NM_001286257.2:c.181C>T NP_001273186.1:p.Gln61Ter
NM_145064.2:c.739C>T NP_659501.1:p.Gln247Ter
NR_104422.1:n.441C>T
NR_104422.2:n.435C>T
ENST00000332782.6:c.739C>T ENSP00000329200.2:p.Gln247Ter
ENST00000546246.2:c.181C>T ENSP00000441515.2:p.Gln61Ter
ENST00000554578.5:c.622C>T ENSP00000452068.1:p.Gln208Ter
ENST00000557176.5:c.114C>T ENSP00000450740.1:p.Ser38=
XM_011538126.1:c.739C>T XP_011536428.1:p.Gln247Ter
XM_011538126.2:c.739C>T XP_011536428.1:p.Gln247Ter
XR_002957305.1:n.868C>T
XR_944515.1:n.868C>T
XR_944515.2:n.868C>T