Canonical Allele Identifier: CA13436537
Gene: DNHD1 HGNC NCBI

Linked Data

dbSNP Id: rs2555155
gnomAD v2: 11-6522804-G-A
gnomAD v3: 11-6501574-G-A
gnomAD v4: 11-6501574-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.6501574G>A , CM000673.2:g.6501574G>A GRCh38
NC_000011.9:g.6522804G>A , CM000673.1:g.6522804G>A GRCh37
NC_000011.8:g.6479380G>A NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000254579.11:c.747-1179G>A MANE Select ENSP00000254579.6:n.747-1179G>A
ENST00000639224.1:c.*69-1179G>A ENSP00000492738.1:n.*69-1179G>A
ENST00000254579.10:c.747-1179G>A ENSP00000254579.6:n.747-1179G>A
ENST00000354685.7:c.747-1179G>A ENSP00000346716.3:n.747-1179G>A
ENST00000464330.5:c.*69-1179G>A ENSP00000419490.1:n.*69-1179G>A
ENST00000473019.5:n.395-1179G>A
ENST00000527990.6:c.747-1179G>A ENSP00000436180.2:n.747-1179G>A
NM_144666.2:c.747-1179G>A NP_653267.2:n.747-1179G>A
NM_173589.3:c.747-1179G>A NP_775860.3:n.747-1179G>A
NM_173589.4:c.747-1179G>A NP_775860.3:n.747-1179G>A
NM_144666.3:c.747-1179G>A MANE Select NP_653267.2:n.747-1179G>A