Canonical Allele Identifier: CA2624006145
Gene: OSGEP HGNC NCBI

Linked Data

gnomAD v4: 14-20454876-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454876T>C , CM000676.2:g.20454876T>C GRCh38
NC_000014.8:g.20923035T>C , CM000676.1:g.20923035T>C GRCh37
NC_000014.7:g.19992875T>C NCBI36
NG_008718.1:g.4746T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-193A>G ENSP00000206542.4:n.-193A>G
ENST00000556252.1:n.178A>G
ENST00000556439.1:n.214A>G
NM_017807.3:c.-193A>G NP_060277.1:n.-193A>G
XM_011536930.1:c.-254A>G XP_011535232.1:n.-254A>G
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