Canonical Allele Identifier: CA2624006181
Gene: OSGEP HGNC NCBI

Linked Data

gnomAD v4: 14-20454912-T-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454912T>A , CM000676.2:g.20454912T>A GRCh38
NC_000014.8:g.20923071T>A , CM000676.1:g.20923071T>A GRCh37
NC_000014.7:g.19992911T>A NCBI36
NG_008718.1:g.4782T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-229A>T ENSP00000206542.4:n.-229A>T
ENST00000556252.1:n.142A>T
ENST00000556439.1:n.178A>T
NM_017807.3:c.-229A>T NP_060277.1:n.-229A>T
XM_011536930.1:c.-290A>T XP_011535232.1:n.-290A>T
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