Canonical Allele Identifier: CA2434454

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52370183T>G , CM000665.2:g.52370183T>G	GRCh38
NC_000003.11:g.52404199T>G , CM000665.1:g.52404199T>G	GRCh37
NC_000003.10:g.52379239T>G	NCBI36
NG_052911.1:g.58865T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.6212T>G MANE Select	NP_056327.4:p.Leu2071Arg
ENST00000420323.7:c.6212T>G MANE Select	ENSP00000401514.2:p.Leu2071Arg
NM_015512.4:c.6212T>G	NP_056327.4:p.Leu2071Arg
ENST00000420323.6:c.6212T>G	ENSP00000401514.2:p.Leu2071Arg
ENST00000486752.5:n.6473T>G
XM_011533577.1:c.6281T>G	XP_011531879.1:p.Leu2094Arg
XM_017006129.1:c.6281T>G	XP_016861618.1:p.Leu2094Arg
XM_017006130.1:c.6212T>G	XP_016861619.1:p.Leu2071Arg
XM_017006131.1:c.6281T>G	XP_016861620.1:p.Leu2094Arg
XM_017006132.1:c.6281T>G	XP_016861621.1:p.Leu2094Arg
XM_017006133.1:c.6281T>G	XP_016861622.1:p.Leu2094Arg
XR_001740098.1:n.9430T>G
XR_001740099.1:n.9430T>G