Canonical Allele Identifier: CA337330492
Gene: OFD1P6Y HGNC NCBI

Linked Data

gnomAD v3: Y-18675667-T-C
gnomAD v4: Y-18675667-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.18675667T>C , CM000686.2:g.18675667T>C GRCh38
NC_000024.9:g.20837553T>C , CM000686.1:g.20837553T>C GRCh37
NC_000024.8:g.19296941T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000451061.5:n.314+95T>C