Canonical Allele Identifier: CA290856856
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs112075264
gnomAD v3: 17-43755383-T-C
gnomAD v4: 17-43755383-T-C
MyVariant Identifiers: chr17:g.41832751T>C (hg19) chr17:g.43755383T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755383T>C , CM000679.2:g.43755383T>C GRCh38
NC_000017.10:g.41832751T>C , CM000679.1:g.41832751T>C GRCh37
NC_000017.9:g.39188277T>C NCBI36
NG_008078.2:g.8406A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.601A>G MANE Select ENSP00000301691.1:p.Ser201Gly
ENST00000301691.2:c.601A>G ENSP00000301691.1:p.Ser201Gly
NM_025237.2:c.601A>G NP_079513.1:p.Ser201Gly
NM_025237.3:c.601A>G MANE Select NP_079513.1:p.Ser201Gly
Search 100 bp 5'
Search 100 bp 3'