Canonical Allele Identifier: CA399701317
Gene: SOST HGNC NCBI

Linked Data

gnomAD v4: 17-43755404-T-C
MyVariant Identifiers: chr17:g.41832772T>C (hg19) chr17:g.43755404T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.43755404T>C , CM000679.2:g.43755404T>C GRCh38
NC_000017.10:g.41832772T>C , CM000679.1:g.41832772T>C GRCh37
NC_000017.9:g.39188298T>C NCBI36
NG_008078.2:g.8385A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301691.3:c.580A>G MANE Select ENSP00000301691.1:p.Lys194Glu
ENST00000301691.2:c.580A>G ENSP00000301691.1:p.Lys194Glu
NM_025237.2:c.580A>G NP_079513.1:p.Lys194Glu
NM_025237.3:c.580A>G MANE Select NP_079513.1:p.Lys194Glu
Search 100 bp 5'
Search 100 bp 3'