Canonical Allele Identifier: CA8592808

Gene: SOST

Linked Data

• dbSNP Id: rs762778690
• ExAC: 17:41833017 G / T
• gnomAD v2: 17-41833017-G-T
• gnomAD v3: 17-43755649-G-T
• gnomAD v4: 17-43755649-G-T
• MyVariant Identifiers: chr17:g.41833017G>T (hg19) ; chr17:g.43755649G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43755649G>T , CM000679.2:g.43755649G>T	GRCh38
NC_000017.10:g.41833017G>T , CM000679.1:g.41833017G>T	GRCh37
NC_000017.9:g.39188543G>T	NCBI36
NG_008078.2:g.8140C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301691.3:c.335C>A MANE Select	ENSP00000301691.1:p.Ala112Glu
ENST00000301691.2:c.335C>A	ENSP00000301691.1:p.Ala112Glu
NM_025237.2:c.335C>A	NP_079513.1:p.Ala112Glu
NM_025237.3:c.335C>A MANE Select	NP_079513.1:p.Ala112Glu