Canonical Allele Identifier: CA290857302
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs1033755349
gnomAD v2: 17-41833223-C-G
gnomAD v3: 17-43755855-C-G
gnomAD v4: 17-43755855-C-G
MyVariant Identifiers: chr17:g.41833223C>G (hg19) chr17:g.43755855C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755855C>G , CM000679.2:g.43755855C>G GRCh38
NC_000017.10:g.41833223C>G , CM000679.1:g.41833223C>G GRCh37
NC_000017.9:g.39188749C>G NCBI36
NG_008078.2:g.7934G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.221-92G>C MANE Select ENSP00000301691.1:n.221-92G>C
ENST00000301691.2:c.221-92G>C ENSP00000301691.1:n.221-92G>C
NM_025237.2:c.221-92G>C NP_079513.1:n.221-92G>C
NM_025237.3:c.221-92G>C MANE Select NP_079513.1:n.221-92G>C
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