Canonical Allele Identifier: CA353200378

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52392507C>T , CM000665.2:g.52392507C>T	GRCh38
NC_000003.11:g.52426523C>T , CM000665.1:g.52426523C>T	GRCh37
NC_000003.10:g.52401563C>T	NCBI36
NG_052911.1:g.81189C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.10096C>T MANE Select	NP_056327.4:p.Arg3366Ter
ENST00000420323.7:c.10096C>T MANE Select	ENSP00000401514.2:p.Arg3366Ter
NM_015512.4:c.10096C>T	NP_056327.4:p.Arg3366Ter
ENST00000420323.6:c.10096C>T	ENSP00000401514.2:p.Arg3366Ter
ENST00000480649.1:c.530C>T
ENST00000486752.5:n.10553C>T
ENST00000488988.5:n.1882C>T
ENST00000490713.5:c.796C>T	ENSP00000419071.1:p.Arg266Ter
XM_011533577.1:c.10165C>T	XP_011531879.1:p.Arg3389Ter
XM_017006129.1:c.10165C>T	XP_016861618.1:p.Arg3389Ter
XM_017006130.1:c.10096C>T	XP_016861619.1:p.Arg3366Ter
XM_017006131.1:c.10039C>T	XP_016861620.1:p.Arg3347Ter
XR_001740098.1:n.13314C>T
XR_001740099.1:n.13314C>T