Canonical Allele Identifier: CA290856934
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs899416278
gnomAD v2: 17-41832798-T-A
gnomAD v3: 17-43755430-T-A
gnomAD v4: 17-43755430-T-A
MyVariant Identifiers: chr17:g.41832798T>A (hg19) chr17:g.43755430T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755430T>A , CM000679.2:g.43755430T>A GRCh38
NC_000017.10:g.41832798T>A , CM000679.1:g.41832798T>A GRCh37
NC_000017.9:g.39188324T>A NCBI36
NG_008078.2:g.8359A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.554A>T MANE Select ENSP00000301691.1:p.Glu185Val
ENST00000301691.2:c.554A>T ENSP00000301691.1:p.Glu185Val
NM_025237.2:c.554A>T NP_079513.1:p.Glu185Val
NM_025237.3:c.554A>T MANE Select NP_079513.1:p.Glu185Val
Search 100 bp 5'
Search 100 bp 3'