Canonical Allele Identifier: CA2435843

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52393026G>A , CM000665.2:g.52393026G>A	GRCh38
NC_000003.11:g.52427042G>A , CM000665.1:g.52427042G>A	GRCh37
NC_000003.10:g.52402082G>A	NCBI36
NG_052911.1:g.81708G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.10474+1G>A MANE Select	NP_056327.4:n.10474+1G>A
ENST00000420323.7:c.10474+1G>A MANE Select	ENSP00000401514.2:n.10474+1G>A
NM_015512.4:c.10474+1G>A	NP_056327.4:n.10474+1G>A
ENST00000420323.6:c.10474+1G>A	ENSP00000401514.2:n.10474+1G>A
ENST00000486752.5:n.10931+1G>A
ENST00000488988.5:n.2260+1G>A
ENST00000490713.5:c.1174+1G>A	ENSP00000419071.1:n.1174+1G>A
XM_011533577.1:c.10543+1G>A	XP_011531879.1:n.10543+1G>A
XM_017006129.1:c.10543+1G>A	XP_016861618.1:n.10543+1G>A
XM_017006130.1:c.10474+1G>A	XP_016861619.1:n.10474+1G>A
XM_017006131.1:c.10417+1G>A	XP_016861620.1:n.10417+1G>A
XR_001740098.1:n.13692+1G>A
XR_001740099.1:n.13692+1G>A