Canonical Allele Identifier: CA20072478

Gene: SDC3

Linked Data

• dbSNP Id: rs2491132
• gnomAD v4: 1-30876800-C-G
• MyVariant Identifiers: chr1:g.31349647C>G (hg19) ; chr1:g.30876800C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000339394.7:c.622G>C MANE Select	ENSP00000344468.6:p.Val208Leu
ENST00000336798.11:c.448G>C	ENSP00000338346.7:p.Val150Leu
ENST00000339394.6:c.622G>C	ENSP00000344468.6:p.Val208Leu
ENST00000471567.1:n.556G>C
NM_014654.3:c.622G>C	NP_055469.3:p.Val208Leu
XM_011542462.1:c.625G>C	XP_011540764.1:p.Val209Leu
XM_011542463.1:c.589G>C	XP_011540765.1:p.Val197Leu
XM_011542464.1:c.586G>C	XP_011540766.1:p.Val196Leu
XM_011542465.1:c.547G>C	XP_011540767.1:p.Val183Leu
XM_011542466.1:c.496G>C	XP_011540768.1:p.Val166Leu
XM_011542464.2:c.586G>C	XP_011540766.1:p.Val196Leu
NM_014654.4:c.622G>C MANE Select	NP_055469.3:p.Val208Leu