Canonical Allele Identifier: CA2122038035
Gene: OSGEP HGNC NCBI

Linked Data

dbSNP Id: rs1881237326
gnomAD v4: 14-20454908-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454908T>G , CM000676.2:g.20454908T>G GRCh38
NC_000014.8:g.20923067T>G , CM000676.1:g.20923067T>G GRCh37
NC_000014.7:g.19992907T>G NCBI36
NG_008718.1:g.4778T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-225A>C ENSP00000206542.4:n.-225A>C
ENST00000556252.1:n.146A>C
ENST00000556439.1:n.182A>C
NM_017807.3:c.-225A>C NP_060277.1:n.-225A>C
XM_011536930.1:c.-286A>C XP_011535232.1:n.-286A>C
Search 100 bp 5'
Search 100 bp 3'