Canonical Allele Identifier: CA399702128
Gene: SOST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755643A>C , CM000679.2:g.43755643A>C GRCh38
NC_000017.10:g.41833011A>C , CM000679.1:g.41833011A>C GRCh37
NC_000017.9:g.39188537A>C NCBI36
NG_008078.2:g.8146T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.341T>G MANE Select ENSP00000301691.1:p.Leu114Arg
ENST00000301691.2:c.341T>G ENSP00000301691.1:p.Leu114Arg
NM_025237.2:c.341T>G NP_079513.1:p.Leu114Arg
NM_025237.3:c.341T>G MANE Select NP_079513.1:p.Leu114Arg