Canonical Allele Identifier: CA353206301

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52394663T>C , CM000665.2:g.52394663T>C	GRCh38
NC_000003.11:g.52428679T>C , CM000665.1:g.52428679T>C	GRCh37
NC_000003.10:g.52403719T>C	NCBI36
NG_052911.1:g.83345T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.10823+2T>C MANE Select	NP_056327.4:n.10823+2T>C
ENST00000420323.7:c.10823+2T>C MANE Select	ENSP00000401514.2:n.10823+2T>C
NM_015512.4:c.10823+2T>C	NP_056327.4:n.10823+2T>C
ENST00000420323.6:c.10823+2T>C	ENSP00000401514.2:n.10823+2T>C
ENST00000486752.5:n.11280+2T>C
ENST00000487254.1:n.67T>C
ENST00000488988.5:n.2609+2T>C
ENST00000490713.5:c.1523+2T>C	ENSP00000419071.1:n.1523+2T>C
XM_011533577.1:c.10892+2T>C	XP_011531879.1:n.10892+2T>C
XM_017006129.1:c.10892+2T>C	XP_016861618.1:n.10892+2T>C
XM_017006130.1:c.10823+2T>C	XP_016861619.1:n.10823+2T>C
XM_017006131.1:c.10766+2T>C	XP_016861620.1:n.10766+2T>C
XR_001740098.1:n.14041+2T>C
XR_001740099.1:n.14041+2T>C