Canonical Allele Identifier: CA2624006155
Gene: OSGEP HGNC NCBI

Linked Data

gnomAD v4: 14-20454892-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454892C>G , CM000676.2:g.20454892C>G GRCh38
NC_000014.8:g.20923051C>G , CM000676.1:g.20923051C>G GRCh37
NC_000014.7:g.19992891C>G NCBI36
NG_008718.1:g.4762C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-209G>C ENSP00000206542.4:n.-209G>C
ENST00000556252.1:n.162G>C
ENST00000556439.1:n.198G>C
NM_017807.3:c.-209G>C NP_060277.1:n.-209G>C
XM_011536930.1:c.-270G>C XP_011535232.1:n.-270G>C
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