Canonical Allele Identifier: CA2435056

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52383422G>A , CM000665.2:g.52383422G>A	GRCh38
NC_000003.11:g.52417438G>A , CM000665.1:g.52417438G>A	GRCh37
NC_000003.10:g.52392478G>A	NCBI36
NG_052911.1:g.72104G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.7978G>A MANE Select	NP_056327.4:p.Val2660Ile
ENST00000420323.7:c.7978G>A MANE Select	ENSP00000401514.2:p.Val2660Ile
NM_015512.4:c.7978G>A	NP_056327.4:p.Val2660Ile
ENST00000420323.6:c.7978G>A	ENSP00000401514.2:p.Val2660Ile
ENST00000486752.5:n.8239G>A
XM_011533577.1:c.8047G>A	XP_011531879.1:p.Val2683Ile
XM_017006129.1:c.8047G>A	XP_016861618.1:p.Val2683Ile
XM_017006130.1:c.7978G>A	XP_016861619.1:p.Val2660Ile
XM_017006131.1:c.8047G>A	XP_016861620.1:p.Val2683Ile
XM_017006132.1:c.8047G>A	XP_016861621.1:p.Val2683Ile
XM_017006133.1:c.8047G>A	XP_016861622.1:p.Val2683Ile
XR_001740098.1:n.11196G>A
XR_001740099.1:n.11196G>A