Canonical Allele Identifier: CA2624006139
Gene: OSGEP HGNC NCBI

Linked Data

gnomAD v4: 14-20454872-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454872G>T , CM000676.2:g.20454872G>T GRCh38
NC_000014.8:g.20923031G>T , CM000676.1:g.20923031G>T GRCh37
NC_000014.7:g.19992871G>T NCBI36
NG_008718.1:g.4742G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-189C>A ENSP00000206542.4:n.-189C>A
ENST00000556252.1:n.182C>A
ENST00000556439.1:n.218C>A
NM_017807.3:c.-189C>A NP_060277.1:n.-189C>A
XM_011536930.1:c.-250C>A XP_011535232.1:n.-250C>A
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