Canonical Allele Identifier: CA339557232

Gene: SDC3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.30874473G>C , CM000663.2:g.30874473G>C	GRCh38
NC_000001.10:g.31347320G>C , CM000663.1:g.31347320G>C	GRCh37
NC_000001.9:g.31119907G>C	NCBI36
NG_013371.1:g.39161C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339394.7:c.986C>G MANE Select	ENSP00000344468.6:p.Thr329Arg
ENST00000336798.11:c.812C>G	ENSP00000338346.7:p.Thr271Arg
ENST00000339394.6:c.986C>G	ENSP00000344468.6:p.Thr329Arg
NM_014654.3:c.986C>G	NP_055469.3:p.Thr329Arg
XM_011542462.1:c.989C>G	XP_011540764.1:p.Thr330Arg
XM_011542463.1:c.953C>G	XP_011540765.1:p.Thr318Arg
XM_011542464.1:c.950C>G	XP_011540766.1:p.Thr317Arg
XM_011542465.1:c.911C>G	XP_011540767.1:p.Thr304Arg
XM_011542466.1:c.860C>G	XP_011540768.1:p.Thr287Arg
XM_011542464.2:c.950C>G	XP_011540766.1:p.Thr317Arg
NM_014654.4:c.986C>G MANE Select	NP_055469.3:p.Thr329Arg