Canonical Allele Identifier: CA2436030

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52395309C>G , CM000665.2:g.52395309C>G	GRCh38
NC_000003.11:g.52429325C>G , CM000665.1:g.52429325C>G	GRCh37
NC_000003.10:g.52404365C>G	NCBI36
NG_052911.1:g.83991C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.10970C>G MANE Select	NP_056327.4:p.Thr3657Arg
ENST00000420323.7:c.10970C>G MANE Select	ENSP00000401514.2:p.Thr3657Arg
NM_015512.4:c.10970C>G	NP_056327.4:p.Thr3657Arg
ENST00000420323.6:c.10970C>G	ENSP00000401514.2:p.Thr3657Arg
ENST00000486752.5:n.11427C>G
ENST00000487254.1:n.465C>G
ENST00000488988.5:n.2756C>G
ENST00000490713.5:c.1670C>G	ENSP00000419071.1:p.Thr557Arg
XM_011533577.1:c.11039C>G	XP_011531879.1:p.Thr3680Arg
XM_017006129.1:c.11039C>G	XP_016861618.1:p.Thr3680Arg
XM_017006130.1:c.10970C>G	XP_016861619.1:p.Thr3657Arg
XM_017006131.1:c.10913C>G	XP_016861620.1:p.Thr3638Arg
XR_001740098.1:n.14188C>G
XR_001740099.1:n.14188C>G