Canonical Allele Identifier: CA2624006178
Gene: OSGEP HGNC NCBI

Linked Data

gnomAD v4: 14-20454910-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454910C>A , CM000676.2:g.20454910C>A GRCh38
NC_000014.8:g.20923069C>A , CM000676.1:g.20923069C>A GRCh37
NC_000014.7:g.19992909C>A NCBI36
NG_008718.1:g.4780C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-227G>T ENSP00000206542.4:n.-227G>T
ENST00000556252.1:n.144G>T
ENST00000556439.1:n.180G>T
NM_017807.3:c.-227G>T NP_060277.1:n.-227G>T
XM_011536930.1:c.-288G>T XP_011535232.1:n.-288G>T
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