Canonical Allele Identifier: CA2435875

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52393393A>G , CM000665.2:g.52393393A>G	GRCh38
NC_000003.11:g.52427409A>G , CM000665.1:g.52427409A>G	GRCh37
NC_000003.10:g.52402449A>G	NCBI36
NG_052911.1:g.82075A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.10534A>G MANE Select	NP_056327.4:p.Asn3512Asp
ENST00000420323.7:c.10534A>G MANE Select	ENSP00000401514.2:p.Asn3512Asp
NM_015512.4:c.10534A>G	NP_056327.4:p.Asn3512Asp
ENST00000420323.6:c.10534A>G	ENSP00000401514.2:p.Asn3512Asp
ENST00000486752.5:n.10991A>G
ENST00000488988.5:n.2320A>G
ENST00000490713.5:c.1234A>G	ENSP00000419071.1:p.Asn412Asp
XM_011533577.1:c.10603A>G	XP_011531879.1:p.Asn3535Asp
XM_017006129.1:c.10603A>G	XP_016861618.1:p.Asn3535Asp
XM_017006130.1:c.10534A>G	XP_016861619.1:p.Asn3512Asp
XM_017006131.1:c.10477A>G	XP_016861620.1:p.Asn3493Asp
XR_001740098.1:n.13752A>G
XR_001740099.1:n.13752A>G