Canonical Allele Identifier: CA399702247

Gene: SOST

Linked Data

• dbSNP Id: rs1391350953
• gnomAD v2: 17-41833042-C-T
• gnomAD v4: 17-43755674-C-T
• MyVariant Identifiers: chr17:g.41833042C>T (hg19) ; chr17:g.43755674C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43755674C>T , CM000679.2:g.43755674C>T	GRCh38
NC_000017.10:g.41833042C>T , CM000679.1:g.41833042C>T	GRCh37
NC_000017.9:g.39188568C>T	NCBI36
NG_008078.2:g.8115G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301691.3:c.310G>A MANE Select	ENSP00000301691.1:p.Val104Met
ENST00000301691.2:c.310G>A	ENSP00000301691.1:p.Val104Met
NM_025237.2:c.310G>A	NP_079513.1:p.Val104Met
NM_025237.3:c.310G>A MANE Select	NP_079513.1:p.Val104Met