Canonical Allele Identifier: CA399703409
Gene: SOST HGNC NCBI
ClinVar RCV:
RCV000024298
ClinVar Variation:
31593
dbSNP:
387907169
MyVariant.info:
GRCh38 chr17:g.43758681C>A
GRCh37 chr17:g.41836049C>A
Revel Score:
ENST00000301691 (MANE Select) 0.290
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43758681C>A , CM000679.2:g.43758681C>A GRCh38
NC_000017.10:g.41836049C>A , CM000679.1:g.41836049C>A GRCh37
NC_000017.9:g.39191575C>A NCBI36
NG_008078.2:g.5108G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.61G>T MANE Select ENSP00000301691.1:p.Val21Leu
ENST00000301691.2:c.61G>T ENSP00000301691.1:p.Val21Leu
NM_025237.2:c.61G>T NP_079513.1:p.Val21Leu
NM_025237.3:c.61G>T MANE Select NP_079513.1:p.Val21Leu
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