Canonical Allele Identifier: CA122690

Gene: SDC3

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.30876800C>T , CM000663.2:g.30876800C>T	GRCh38
NC_000001.10:g.31349647C>T , CM000663.1:g.31349647C>T	GRCh37
NC_000001.9:g.31122234C>T	NCBI36
NG_013371.1:g.36834G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000339394.7:c.622G>A MANE Select	ENSP00000344468.6:p.Val208Ile
ENST00000336798.11:c.448G>A	ENSP00000338346.7:p.Val150Ile
ENST00000339394.6:c.622G>A	ENSP00000344468.6:p.Val208Ile
ENST00000471567.1:n.556G>A
NM_014654.3:c.622G>A	NP_055469.3:p.Val208Ile
XM_011542462.1:c.625G>A	XP_011540764.1:p.Val209Ile
XM_011542463.1:c.589G>A	XP_011540765.1:p.Val197Ile
XM_011542464.1:c.586G>A	XP_011540766.1:p.Val196Ile
XM_011542465.1:c.547G>A	XP_011540767.1:p.Val183Ile
XM_011542466.1:c.496G>A	XP_011540768.1:p.Val166Ile
XM_011542464.2:c.586G>A	XP_011540766.1:p.Val196Ile
NM_014654.4:c.622G>A MANE Select	NP_055469.3:p.Val208Ile