Canonical Allele Identifier: CA5856412

Gene: DNHD1 RRP8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6563111C>T , CM000673.2:g.6563111C>T	GRCh38
NC_000011.9:g.6584341C>T , CM000673.1:g.6584341C>T	GRCh37
NC_000011.8:g.6540917C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144666.3:c.9649C>T (DNHD1) MANE Select	NP_653267.2:p.Arg3217Ter
ENST00000254579.11:c.9649C>T (DNHD1) MANE Select	ENSP00000254579.6:p.Arg3217Ter
NM_144666.2:c.9649C>T (DNHD1)	NP_653267.2:p.Arg3217Ter
ENST00000254579.10:c.9649C>T (DNHD1)	ENSP00000254579.6:p.Arg3217Ter
ENST00000524401.2:c.891C>T (DNHD1)
ENST00000526027.1:n.406C>T (DNHD1)
ENST00000527990.6:c.9649C>T (DNHD1)	ENSP00000436180.2:p.Arg3217Ter
ENST00000531903.5:n.873C>T (DNHD1)
ENST00000534210.6:n.2742+3828C>T (DNHD1)
XR_930858.1:n.1532-17971G>A (RRP8)
XR_930859.1:n.1531+29609G>A (RRP8)