Canonical Allele Identifier: CA399701398

Gene: SOST

Linked Data

• dbSNP Id: rs752580629
• gnomAD v2: 17-41832797-C-G
• gnomAD v4: 17-43755429-C-G
• MyVariant Identifiers: chr17:g.41832797C>G (hg19) ; chr17:g.43755429C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43755429C>G , CM000679.2:g.43755429C>G	GRCh38
NC_000017.10:g.41832797C>G , CM000679.1:g.41832797C>G	GRCh37
NC_000017.9:g.39188323C>G	NCBI36
NG_008078.2:g.8360G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301691.3:c.555G>C MANE Select	ENSP00000301691.1:p.Glu185Asp
ENST00000301691.2:c.555G>C	ENSP00000301691.1:p.Glu185Asp
NM_025237.2:c.555G>C	NP_079513.1:p.Glu185Asp
NM_025237.3:c.555G>C MANE Select	NP_079513.1:p.Glu185Asp