Canonical Allele Identifier: CA399702243
Gene: SOST HGNC NCBI

Linked Data

gnomAD v4: 17-43755673-A-T
MyVariant Identifiers: chr17:g.41833041A>T (hg19) chr17:g.43755673A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755673A>T , CM000679.2:g.43755673A>T GRCh38
NC_000017.10:g.41833041A>T , CM000679.1:g.41833041A>T GRCh37
NC_000017.9:g.39188567A>T NCBI36
NG_008078.2:g.8116T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.311T>A MANE Select ENSP00000301691.1:p.Val104Glu
ENST00000301691.2:c.311T>A ENSP00000301691.1:p.Val104Glu
NM_025237.2:c.311T>A NP_079513.1:p.Val104Glu
NM_025237.3:c.311T>A MANE Select NP_079513.1:p.Val104Glu
Search 100 bp 5'
Search 100 bp 3'