Canonical Allele Identifier: CA399701287

Gene: SOST

Linked Data

• dbSNP Id: rs1441494673
• gnomAD v2: 17-41832763-G-A
• gnomAD v4: 17-43755395-G-A
• MyVariant Identifiers: chr17:g.41832763G>A (hg19) ; chr17:g.43755395G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43755395G>A , CM000679.2:g.43755395G>A	GRCh38
NC_000017.10:g.41832763G>A , CM000679.1:g.41832763G>A	GRCh37
NC_000017.9:g.39188289G>A	NCBI36
NG_008078.2:g.8394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301691.3:c.589C>T MANE Select	ENSP00000301691.1:p.Pro197Ser
ENST00000301691.2:c.589C>T	ENSP00000301691.1:p.Pro197Ser
NM_025237.2:c.589C>T	NP_079513.1:p.Pro197Ser
NM_025237.3:c.589C>T MANE Select	NP_079513.1:p.Pro197Ser