Canonical Allele Identifier: CA399702247
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs1391350953
gnomAD v2: 17-41833042-C-T
gnomAD v4: 17-43755674-C-T
MyVariant Identifiers: chr17:g.41833042C>T (hg19) chr17:g.43755674C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755674C>T , CM000679.2:g.43755674C>T GRCh38
NC_000017.10:g.41833042C>T , CM000679.1:g.41833042C>T GRCh37
NC_000017.9:g.39188568C>T NCBI36
NG_008078.2:g.8115G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.310G>A MANE Select ENSP00000301691.1:p.Val104Met
ENST00000301691.2:c.310G>A ENSP00000301691.1:p.Val104Met
NM_025237.2:c.310G>A NP_079513.1:p.Val104Met
NM_025237.3:c.310G>A MANE Select NP_079513.1:p.Val104Met
Search 100 bp 5'
Search 100 bp 3'