Canonical Allele Identifier: CA728375
Gene: SDC3 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.30874552C>A
GRCh37 chr1:g.31347399C>A
Revel Score:
ENST00000336798 0.047
ENST00000339394 (MANE Select) 0.047
gnomAD v2:
1:31347399 C / A
gnomAD v4:
chr1-30874552-C-A
Joint Max Group AF 0.00003178 (NFE)
Exomes Max Group AF 0.00003373 (NFE)
dbSNP:
4949184
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.30874552C>A , CM000663.2:g.30874552C>A GRCh38
NC_000001.10:g.31347399C>A , CM000663.1:g.31347399C>A GRCh37
NC_000001.9:g.31119986C>A NCBI36
NG_013371.1:g.39082G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000339394.7:c.907G>T MANE Select ENSP00000344468.6:p.Asp303Tyr
ENST00000336798.11:c.733G>T ENSP00000338346.7:p.Asp245Tyr
ENST00000339394.6:c.907G>T ENSP00000344468.6:p.Asp303Tyr
NM_014654.3:c.907G>T NP_055469.3:p.Asp303Tyr
XM_011542462.1:c.910G>T XP_011540764.1:p.Asp304Tyr
XM_011542463.1:c.874G>T XP_011540765.1:p.Asp292Tyr
XM_011542464.1:c.871G>T XP_011540766.1:p.Asp291Tyr
XM_011542465.1:c.832G>T XP_011540767.1:p.Asp278Tyr
XM_011542466.1:c.781G>T XP_011540768.1:p.Asp261Tyr
XM_011542464.2:c.871G>T XP_011540766.1:p.Asp291Tyr
NM_014654.4:c.907G>T MANE Select NP_055469.3:p.Asp303Tyr
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