Canonical Allele Identifier: CA2436177

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52396616A>G , CM000665.2:g.52396616A>G	GRCh38
NC_000003.11:g.52430632A>G , CM000665.1:g.52430632A>G	GRCh37
NC_000003.10:g.52405672A>G	NCBI36
NG_052911.1:g.85298A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.11431-2A>G MANE Select	NP_056327.4:n.11431-2A>G
ENST00000420323.7:c.11431-2A>G MANE Select	ENSP00000401514.2:n.11431-2A>G
NM_015512.4:c.11431-2A>G	NP_056327.4:n.11431-2A>G
ENST00000420323.6:c.11431-2A>G	ENSP00000401514.2:n.11431-2A>G
ENST00000486752.5:n.11888-2A>G
ENST00000488988.5:n.3217-2A>G
ENST00000490713.5:c.2131-2A>G	ENSP00000419071.1:n.2131-2A>G
XM_011533577.1:c.11500-2A>G	XP_011531879.1:n.11500-2A>G
XM_017006129.1:c.11500-2A>G	XP_016861618.1:n.11500-2A>G
XM_017006130.1:c.11431-2A>G	XP_016861619.1:n.11431-2A>G
XM_017006131.1:c.11374-2A>G	XP_016861620.1:n.11374-2A>G
XR_001740098.1:n.14649-2A>G
XR_001740099.1:n.14649-2A>G