Canonical Allele Identifier: CA399701347
Gene: SOST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755413T>A , CM000679.2:g.43755413T>A GRCh38
NC_000017.10:g.41832781T>A , CM000679.1:g.41832781T>A GRCh37
NC_000017.9:g.39188307T>A NCBI36
NG_008078.2:g.8376A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.571A>T MANE Select ENSP00000301691.1:p.Lys191Ter
ENST00000301691.2:c.571A>T ENSP00000301691.1:p.Lys191Ter
NM_025237.2:c.571A>T NP_079513.1:p.Lys191Ter
NM_025237.3:c.571A>T MANE Select NP_079513.1:p.Lys191Ter