Canonical Allele Identifier: CA433884951

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52394972C>G , CM000665.2:g.52394972C>G	GRCh38
NC_000003.11:g.52428988C>G , CM000665.1:g.52428988C>G	GRCh37
NC_000003.10:g.52404028C>G	NCBI36
NG_052911.1:g.83654C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.10881C>G MANE Select	ENSP00000401514.2:p.Val3627=
ENST00000420323.6:c.10881C>G	ENSP00000401514.2:p.Val3627=
ENST00000486752.5:n.11338C>G
ENST00000487254.1:n.376C>G
ENST00000488988.5:n.2667C>G
ENST00000490713.5:c.1581C>G	ENSP00000419071.1:p.Val527=
NM_015512.4:c.10881C>G	NP_056327.4:p.Val3627=
XM_011533577.1:c.10950C>G	XP_011531879.1:p.Val3650=
XM_017006129.1:c.10950C>G	XP_016861618.1:p.Val3650=
XM_017006130.1:c.10881C>G	XP_016861619.1:p.Val3627=
XM_017006131.1:c.10824C>G	XP_016861620.1:p.Val3608=
XR_001740098.1:n.14099C>G
XR_001740099.1:n.14099C>G
NM_015512.5:c.10881C>G MANE Select	NP_056327.4:p.Val3627=