Canonical Allele Identifier: CA2573102337
Gene: SOST HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.[43755830T>G;43758519T>A] , CM000679.2:g.[43755830T>G;43758519T>A] GRCh38
NC_000017.10:g.[41833198T>G;41835887T>A] , CM000679.1:g.[41833198T>G;41835887T>A] GRCh37
NC_000017.9:g.[39188724T>G;39191413T>A] NCBI36
NG_008078.2:g.[5270A>T;7959A>C]

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.[220+3A>T;221-67A>C] MANE Select ENSP00000301691.1:n.[220+3A>T;221-67A>C]
ENST00000301691.2:c.[220+3A>T;221-67A>C] ENSP00000301691.1:n.[220+3A>T;221-67A>C]
NM_025237.2:c.[220+3A>T;221-67A>C] NP_079513.1:n.[220+3A>T;221-67A>C]
NM_025237.3:c.[220+3A>T;221-67A>C] MANE Select NP_079513.1:n.[220+3A>T;221-67A>C]