Canonical Allele Identifier: CA337330494
Gene: OFD1P6Y HGNC NCBI

Linked Data

dbSNP Id: rs1049544583
gnomAD v3: Y-18675695-A-G
gnomAD v4: Y-18675695-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000024.10:g.18675695A>G , CM000686.2:g.18675695A>G GRCh38
NC_000024.9:g.20837581A>G , CM000686.1:g.20837581A>G GRCh37
NC_000024.8:g.19296969A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000451061.5:n.314+123A>G