Canonical Allele Identifier: CA8592752
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs754855270
ExAC: 17:41832730 C / T
gnomAD v2: 17-41832730-C-T
gnomAD v3: 17-43755362-C-T
gnomAD v4: 17-43755362-C-T
MyVariant Identifiers: chr17:g.41832730C>T (hg19) chr17:g.43755362C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755362C>T , CM000679.2:g.43755362C>T GRCh38
NC_000017.10:g.41832730C>T , CM000679.1:g.41832730C>T GRCh37
NC_000017.9:g.39188256C>T NCBI36
NG_008078.2:g.8427G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.622G>A MANE Select ENSP00000301691.1:p.Glu208Lys
ENST00000301691.2:c.622G>A ENSP00000301691.1:p.Glu208Lys
NM_025237.2:c.622G>A NP_079513.1:p.Glu208Lys
NM_025237.3:c.622G>A MANE Select NP_079513.1:p.Glu208Lys
Search 100 bp 5'
Search 100 bp 3'