Canonical Allele Identifier: CA399701267
Gene: SOST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755388G>A , CM000679.2:g.43755388G>A GRCh38
NC_000017.10:g.41832756G>A , CM000679.1:g.41832756G>A GRCh37
NC_000017.9:g.39188282G>A NCBI36
NG_008078.2:g.8401C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.596C>T MANE Select ENSP00000301691.1:p.Ala199Val
ENST00000301691.2:c.596C>T ENSP00000301691.1:p.Ala199Val
NM_025237.2:c.596C>T NP_079513.1:p.Ala199Val
NM_025237.3:c.596C>T MANE Select NP_079513.1:p.Ala199Val