Canonical Allele Identifier: CA379427474

Gene: DNHD1 RRP8

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6547437T>G , CM000673.2:g.6547437T>G	GRCh38
NC_000011.9:g.6568667T>G , CM000673.1:g.6568667T>G	GRCh37
NC_000011.8:g.6525243T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144666.3:c.6498T>G (DNHD1) MANE Select	NP_653267.2:p.Tyr2166Ter
ENST00000254579.11:c.6498T>G (DNHD1) MANE Select	ENSP00000254579.6:p.Tyr2166Ter
NM_144666.2:c.6498T>G (DNHD1)	NP_653267.2:p.Tyr2166Ter
ENST00000254579.10:c.6498T>G (DNHD1)	ENSP00000254579.6:p.Tyr2166Ter
ENST00000527990.6:c.6498T>G (DNHD1)	ENSP00000436180.2:p.Tyr2166Ter
ENST00000532027.5:c.3721T>G (DNHD1)	ENSP00000435493.1:n.3721T>G
ENST00000533649.1:n.1395T>G (DNHD1)
ENST00000534210.6:n.628+8627T>G (DNHD1)
XR_930858.1:n.1532-2297A>C (RRP8)
XR_930859.1:n.1532-32505A>C (RRP8)