Canonical Allele Identifier: CA8592804

Gene: SOST

Linked Data

• dbSNP Id: rs776585836
• ExAC: 17:41832996 A / C
• gnomAD v2: 17-41832996-A-C
• gnomAD v3: 17-43755628-A-C
• gnomAD v4: 17-43755628-A-C
• MyVariant Identifiers: chr17:g.41832996A>C (hg19) ; chr17:g.43755628A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43755628A>C , CM000679.2:g.43755628A>C	GRCh38
NC_000017.10:g.41832996A>C , CM000679.1:g.41832996A>C	GRCh37
NC_000017.9:g.39188522A>C	NCBI36
NG_008078.2:g.8161T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301691.3:c.356T>G MANE Select	ENSP00000301691.1:p.Ile119Ser
ENST00000301691.2:c.356T>G	ENSP00000301691.1:p.Ile119Ser
NM_025237.2:c.356T>G	NP_079513.1:p.Ile119Ser
NM_025237.3:c.356T>G MANE Select	NP_079513.1:p.Ile119Ser