Canonical Allele Identifier: CA2436240

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52396901G>A , CM000665.2:g.52396901G>A	GRCh38
NC_000003.11:g.52430917G>A , CM000665.1:g.52430917G>A	GRCh37
NC_000003.10:g.52405957G>A	NCBI36
NG_052911.1:g.85583G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.11644G>A MANE Select	NP_056327.4:p.Gly3882Arg
ENST00000420323.7:c.11644G>A MANE Select	ENSP00000401514.2:p.Gly3882Arg
NM_015512.4:c.11644G>A	NP_056327.4:p.Gly3882Arg
ENST00000420323.6:c.11644G>A	ENSP00000401514.2:p.Gly3882Arg
ENST00000486752.5:n.12101G>A
ENST00000488988.5:n.3430G>A
ENST00000490713.5:c.2344G>A	ENSP00000419071.1:p.Gly782Arg
XM_011533577.1:c.11713G>A	XP_011531879.1:p.Gly3905Arg
XM_017006129.1:c.11713G>A	XP_016861618.1:p.Gly3905Arg
XM_017006130.1:c.11644G>A	XP_016861619.1:p.Gly3882Arg
XM_017006131.1:c.11587G>A	XP_016861620.1:p.Gly3863Arg
XR_001740098.1:n.14862G>A
XR_001740099.1:n.14862G>A