Canonical Allele Identifier: CA399702496
Gene: SOST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755738C>G , CM000679.2:g.43755738C>G GRCh38
NC_000017.10:g.41833106C>G , CM000679.1:g.41833106C>G GRCh37
NC_000017.9:g.39188632C>G NCBI36
NG_008078.2:g.8051G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.246G>C MANE Select ENSP00000301691.1:p.Glu82Asp
ENST00000301691.2:c.246G>C ENSP00000301691.1:p.Glu82Asp
NM_025237.2:c.246G>C NP_079513.1:p.Glu82Asp
NM_025237.3:c.246G>C MANE Select NP_079513.1:p.Glu82Asp