Canonical Allele Identifier: CA5855426

Gene: DNHD1

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.6502917G>A , CM000673.2:g.6502917G>A	GRCh38
NC_000011.9:g.6524147G>A , CM000673.1:g.6524147G>A	GRCh37
NC_000011.8:g.6480723G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_144666.3:c.911G>A MANE Select	NP_653267.2:p.Arg304Gln
ENST00000254579.11:c.911G>A MANE Select	ENSP00000254579.6:p.Arg304Gln
NM_144666.2:c.911G>A	NP_653267.2:p.Arg304Gln
NM_173589.3:c.911G>A	NP_775860.3:p.Arg304Gln
NM_173589.4:c.911G>A	NP_775860.3:p.Arg304Gln
ENST00000254579.10:c.911G>A	ENSP00000254579.6:p.Arg304Gln
ENST00000354685.7:c.911G>A	ENSP00000346716.3:p.Arg304Gln
ENST00000464330.5:c.*233G>A	ENSP00000419490.1:n.*233G>A
ENST00000473019.5:n.559G>A
ENST00000527990.6:c.911G>A	ENSP00000436180.2:p.Arg304Gln
ENST00000639224.1:c.*233G>A	ENSP00000492738.1:n.*233G>A