Canonical Allele Identifier: CA399702579

Gene: SOST

Linked Data

• dbSNP Id: rs1405992033
• gnomAD v3: 17-43755760-A-G
• gnomAD v4: 17-43755760-A-G
• MyVariant Identifiers: chr17:g.41833128A>G (hg19) ; chr17:g.43755760A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.43755760A>G , CM000679.2:g.43755760A>G	GRCh38
NC_000017.10:g.41833128A>G , CM000679.1:g.41833128A>G	GRCh37
NC_000017.9:g.39188654A>G	NCBI36
NG_008078.2:g.8029T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301691.3:c.224T>C MANE Select	ENSP00000301691.1:p.Val75Ala
ENST00000301691.2:c.224T>C	ENSP00000301691.1:p.Val75Ala
NM_025237.2:c.224T>C	NP_079513.1:p.Val75Ala
NM_025237.3:c.224T>C MANE Select	NP_079513.1:p.Val75Ala