Canonical Allele Identifier: CA2624006094
Gene: OSGEP HGNC NCBI

Linked Data

dbSNP Id: rs1365482822
gnomAD v4: 14-20454850-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454850G>A , CM000676.2:g.20454850G>A GRCh38
NC_000014.8:g.20923009G>A , CM000676.1:g.20923009G>A GRCh37
NC_000014.7:g.19992849G>A NCBI36
NG_008718.1:g.4720G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-167C>T ENSP00000206542.4:n.-167C>T
ENST00000556252.1:n.204C>T
ENST00000556439.1:n.240C>T
NM_017807.3:c.-167C>T NP_060277.1:n.-167C>T
XM_011536930.1:c.-228C>T XP_011535232.1:n.-228C>T
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