Canonical Allele Identifier: CA399701703

Gene: SOST

Linked Data

• dbSNP Id: rs1319983010
• gnomAD v2: 17-41832883-G-A
• gnomAD v4: 17-43755515-G-A
• MyVariant Identifiers: chr17:g.41832883G>A (hg19) ; chr17:g.43755515G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43755515G>A , CM000679.2:g.43755515G>A	GRCh38
NC_000017.10:g.41832883G>A , CM000679.1:g.41832883G>A	GRCh37
NC_000017.9:g.39188409G>A	NCBI36
NG_008078.2:g.8274C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000301691.3:c.469C>T MANE Select	ENSP00000301691.1:p.Arg157Cys
ENST00000301691.2:c.469C>T	ENSP00000301691.1:p.Arg157Cys
NM_025237.2:c.469C>T	NP_079513.1:p.Arg157Cys
NM_025237.3:c.469C>T MANE Select	NP_079513.1:p.Arg157Cys