Canonical Allele Identifier: CA2436353

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52398044G>A , CM000665.2:g.52398044G>A	GRCh38
NC_000003.11:g.52432060G>A , CM000665.1:g.52432060G>A	GRCh37
NC_000003.10:g.52407100G>A	NCBI36
NG_052911.1:g.86726G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.11971G>A MANE Select	NP_056327.4:p.Val3991Ile
ENST00000420323.7:c.11971G>A MANE Select	ENSP00000401514.2:p.Val3991Ile
NM_015512.4:c.11971G>A	NP_056327.4:p.Val3991Ile
ENST00000420323.6:c.11971G>A	ENSP00000401514.2:p.Val3991Ile
ENST00000486752.5:n.12428G>A
ENST00000488988.5:n.3757G>A
ENST00000490713.5:c.2658+167G>A	ENSP00000419071.1:n.2658+167G>A
XM_011533577.1:c.12040G>A	XP_011531879.1:p.Val4014Ile
XM_017006129.1:c.12040G>A	XP_016861618.1:p.Val4014Ile
XM_017006130.1:c.11971G>A	XP_016861619.1:p.Val3991Ile
XM_017006131.1:c.11914G>A	XP_016861620.1:p.Val3972Ile
XR_001740098.1:n.15176+167G>A
XR_001740099.1:n.15176+167G>A