Canonical Allele Identifier: CA399701635
Gene: SOST HGNC NCBI

Linked Data

gnomAD v4: 17-43755493-G-T
MyVariant Identifiers: chr17:g.41832861G>T (hg19) chr17:g.43755493G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755493G>T , CM000679.2:g.43755493G>T GRCh38
NC_000017.10:g.41832861G>T , CM000679.1:g.41832861G>T GRCh37
NC_000017.9:g.39188387G>T NCBI36
NG_008078.2:g.8296C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.491C>A MANE Select ENSP00000301691.1:p.Ser164Ter
ENST00000301691.2:c.491C>A ENSP00000301691.1:p.Ser164Ter
NM_025237.2:c.491C>A NP_079513.1:p.Ser164Ter
NM_025237.3:c.491C>A MANE Select NP_079513.1:p.Ser164Ter
Search 100 bp 5'
Search 100 bp 3'