Canonical Allele Identifier: CA8592762
Gene: SOST HGNC NCBI

Linked Data

ClinVar Variation Id: 2522680
ClinVar RCV Id: RCV003260690
dbSNP Id: rs553781758
ExAC: 17:41832757 C / A
gnomAD v2: 17-41832757-C-A
gnomAD v3: 17-43755389-C-A
gnomAD v4: 17-43755389-C-A
MyVariant Identifiers: chr17:g.41832757C>A (hg19) chr17:g.43755389C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755389C>A , CM000679.2:g.43755389C>A GRCh38
NC_000017.10:g.41832757C>A , CM000679.1:g.41832757C>A GRCh37
NC_000017.9:g.39188283C>A NCBI36
NG_008078.2:g.8400G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.595G>T MANE Select ENSP00000301691.1:p.Ala199Ser
ENST00000301691.2:c.595G>T ENSP00000301691.1:p.Ala199Ser
NM_025237.2:c.595G>T NP_079513.1:p.Ala199Ser
NM_025237.3:c.595G>T MANE Select NP_079513.1:p.Ala199Ser
Search 100 bp 5'
Search 100 bp 3'