Canonical Allele Identifier: CA2435442

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52388548A>G , CM000665.2:g.52388548A>G	GRCh38
NC_000003.11:g.52422564A>G , CM000665.1:g.52422564A>G	GRCh37
NC_000003.10:g.52397604A>G	NCBI36
NG_052911.1:g.77230A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.9302A>G MANE Select	NP_056327.4:p.Lys3101Arg
ENST00000420323.7:c.9302A>G MANE Select	ENSP00000401514.2:p.Lys3101Arg
NM_015512.4:c.9302A>G	NP_056327.4:p.Lys3101Arg
ENST00000420323.6:c.9302A>G	ENSP00000401514.2:p.Lys3101Arg
ENST00000486752.5:n.9563A>G
ENST00000488988.5:n.892A>G
ENST00000490713.5:c.2A>G	ENSP00000419071.1:p.Lys1Arg
XM_011533577.1:c.9371A>G	XP_011531879.1:p.Lys3124Arg
XM_017006129.1:c.9371A>G	XP_016861618.1:p.Lys3124Arg
XM_017006130.1:c.9302A>G	XP_016861619.1:p.Lys3101Arg
XM_017006131.1:c.9371A>G	XP_016861620.1:p.Lys3124Arg
XM_017006132.1:c.9371A>G	XP_016861621.1:p.Lys3124Arg
XM_017006133.1:c.9371A>G	XP_016861622.1:p.Lys3124Arg
XR_001740098.1:n.12520A>G
XR_001740099.1:n.12520A>G