Canonical Allele Identifier: CA257404562
Gene: OSGEP HGNC NCBI

Linked Data

dbSNP Id: rs1033508910
gnomAD v4: 14-20454824-C-G
MyVariant Identifiers: chr14:g.20454824C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454824C>G , CM000676.2:g.20454824C>G GRCh38
NC_000014.8:g.20922983C>G , CM000676.1:g.20922983C>G GRCh37
NC_000014.7:g.19992823C>G NCBI36
NG_008718.1:g.4694C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-141G>C ENSP00000206542.4:n.-141G>C
ENST00000556252.1:n.230G>C
ENST00000556439.1:n.266G>C
NM_017807.3:c.-141G>C NP_060277.1:n.-141G>C
XM_011536930.1:c.-202G>C XP_011535232.1:n.-202G>C
XM_011536931.1:c.-437G>C XP_011535233.1:n.-437G>C
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