Canonical Allele Identifier: CA500234776
Gene: SOST HGNC NCBI

Linked Data

dbSNP Id: rs552066454
gnomAD v2: 17-41832731-G-A
gnomAD v4: 17-43755363-G-A
COSMIC: COSM6222458
MyVariant Identifiers: chr17:g.41832731G>A (hg19) chr17:g.43755363G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755363G>A , CM000679.2:g.43755363G>A GRCh38
NC_000017.10:g.41832731G>A , CM000679.1:g.41832731G>A GRCh37
NC_000017.9:g.39188257G>A NCBI36
NG_008078.2:g.8426C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.621C>T MANE Select ENSP00000301691.1:p.Ala207=
ENST00000301691.2:c.621C>T ENSP00000301691.1:p.Ala207=
NM_025237.2:c.621C>T NP_079513.1:p.Ala207=
NM_025237.3:c.621C>T MANE Select NP_079513.1:p.Ala207=
Search 100 bp 5'
Search 100 bp 3'