Canonical Allele Identifier: CA399702535
Gene: SOST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755748C>A , CM000679.2:g.43755748C>A GRCh38
NC_000017.10:g.41833116C>A , CM000679.1:g.41833116C>A GRCh37
NC_000017.9:g.39188642C>A NCBI36
NG_008078.2:g.8041G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.236G>T MANE Select ENSP00000301691.1:p.Ser79Ile
ENST00000301691.2:c.236G>T ENSP00000301691.1:p.Ser79Ile
NM_025237.2:c.236G>T NP_079513.1:p.Ser79Ile
NM_025237.3:c.236G>T MANE Select NP_079513.1:p.Ser79Ile