Canonical Allele Identifier: CA8592817
Gene: SOST HGNC NCBI

Linked Data

ClinVar Variation Id: 888899
ClinVar RCV Id: RCV001122498 RCV002556640
dbSNP Id: rs758794256
ExAC: 17:41833049 G / A
gnomAD v2: 17-41833049-G-A
gnomAD v3: 17-43755681-G-A
gnomAD v4: 17-43755681-G-A
MyVariant Identifiers: chr17:g.41833049G>A (hg19) chr17:g.43755681G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755681G>A , CM000679.2:g.43755681G>A GRCh38
NC_000017.10:g.41833049G>A , CM000679.1:g.41833049G>A GRCh37
NC_000017.9:g.39188575G>A NCBI36
NG_008078.2:g.8108C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.303C>T MANE Select ENSP00000301691.1:p.Thr101=
ENST00000301691.2:c.303C>T ENSP00000301691.1:p.Thr101=
NM_025237.2:c.303C>T NP_079513.1:p.Thr101=
NM_025237.3:c.303C>T MANE Select NP_079513.1:p.Thr101=
Search 100 bp 5'
Search 100 bp 3'