Canonical Allele Identifier: CA8592859

Gene: SOST

Linked Data

• ClinVar Variation Id: 323440
• ClinVar RCV Id: RCV000390673 ; RCV002522975
• dbSNP Id: rs150640883
• ExAC: 17:41835957 C / T
• gnomAD v2: 17-41835957-C-T
• gnomAD v3: 17-43758589-C-T
• gnomAD v4: 17-43758589-C-T
• MyVariant Identifiers: chr17:g.41835957C>T (hg19) ; chr17:g.43758589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43758589C>T , CM000679.2:g.43758589C>T	GRCh38
NC_000017.10:g.41835957C>T , CM000679.1:g.41835957C>T	GRCh37
NC_000017.9:g.39191483C>T	NCBI36
NG_008078.2:g.5200G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301691.3:c.153G>A MANE Select	ENSP00000301691.1:p.Glu51=
ENST00000301691.2:c.153G>A	ENSP00000301691.1:p.Glu51=
NM_025237.2:c.153G>A	NP_079513.1:p.Glu51=
NM_025237.3:c.153G>A MANE Select	NP_079513.1:p.Glu51=