Canonical Allele Identifier: CA399701923
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs1336375440
gnomAD v2: 17-41832952-A-G
gnomAD v4: 17-43755584-A-G
MyVariant Identifiers: chr17:g.41832952A>G (hg19) chr17:g.43755584A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755584A>G , CM000679.2:g.43755584A>G GRCh38
NC_000017.10:g.41832952A>G , CM000679.1:g.41832952A>G GRCh37
NC_000017.9:g.39188478A>G NCBI36
NG_008078.2:g.8205T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.400T>C MANE Select ENSP00000301691.1:p.Cys134Arg
ENST00000301691.2:c.400T>C ENSP00000301691.1:p.Cys134Arg
NM_025237.2:c.400T>C NP_079513.1:p.Cys134Arg
NM_025237.3:c.400T>C MANE Select NP_079513.1:p.Cys134Arg
Search 100 bp 5'
Search 100 bp 3'