Canonical Allele Identifier: CA612423771
Gene: OSGEP HGNC NCBI

Linked Data

dbSNP Id: rs1329983101
gnomAD v2: 14-20923066-G-A
gnomAD v3: 14-20454907-G-A
gnomAD v4: 14-20454907-G-A
MyVariant Identifiers: chr14:g.20923066G>A (hg19) chr14:g.20454907G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.20454907G>A , CM000676.2:g.20454907G>A GRCh38
NC_000014.8:g.20923066G>A , CM000676.1:g.20923066G>A GRCh37
NC_000014.7:g.19992906G>A NCBI36
NG_008718.1:g.4777G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000206542.8:c.-224C>T ENSP00000206542.4:n.-224C>T
ENST00000556252.1:n.147C>T
ENST00000556439.1:n.183C>T
NM_017807.3:c.-224C>T NP_060277.1:n.-224C>T
XM_011536930.1:c.-285C>T XP_011535232.1:n.-285C>T
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