Canonical Allele Identifier: CA399701351
Gene: SOST HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755415T>A , CM000679.2:g.43755415T>A GRCh38
NC_000017.10:g.41832783T>A , CM000679.1:g.41832783T>A GRCh37
NC_000017.9:g.39188309T>A NCBI36
NG_008078.2:g.8374A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.569A>T MANE Select ENSP00000301691.1:p.Gln190Leu
ENST00000301691.2:c.569A>T ENSP00000301691.1:p.Gln190Leu
NM_025237.2:c.569A>T NP_079513.1:p.Gln190Leu
NM_025237.3:c.569A>T MANE Select NP_079513.1:p.Gln190Leu