Canonical Allele Identifier: CA399701348
Gene: SOST HGNC NCBI

Linked Data

gnomAD v4: 17-43755414-C-A
MyVariant Identifiers: chr17:g.41832782C>A (hg19) chr17:g.43755414C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755414C>A , CM000679.2:g.43755414C>A GRCh38
NC_000017.10:g.41832782C>A , CM000679.1:g.41832782C>A GRCh37
NC_000017.9:g.39188308C>A NCBI36
NG_008078.2:g.8375G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.570G>T MANE Select ENSP00000301691.1:p.Gln190His
ENST00000301691.2:c.570G>T ENSP00000301691.1:p.Gln190His
NM_025237.2:c.570G>T NP_079513.1:p.Gln190His
NM_025237.3:c.570G>T MANE Select NP_079513.1:p.Gln190His
Search 100 bp 5'
Search 100 bp 3'