Canonical Allele Identifier: CA2435611

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52391189A>G , CM000665.2:g.52391189A>G	GRCh38
NC_000003.11:g.52425205A>G , CM000665.1:g.52425205A>G	GRCh37
NC_000003.10:g.52400245A>G	NCBI36
NG_052911.1:g.79871A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.9752A>G MANE Select	NP_056327.4:p.Asn3251Ser
ENST00000420323.7:c.9752A>G MANE Select	ENSP00000401514.2:p.Asn3251Ser
NM_015512.4:c.9752A>G	NP_056327.4:p.Asn3251Ser
ENST00000420323.6:c.9752A>G	ENSP00000401514.2:p.Asn3251Ser
ENST00000480649.1:c.186A>G
ENST00000486752.5:n.10209A>G
ENST00000488988.5:n.1538A>G
ENST00000490713.5:c.452A>G	ENSP00000419071.1:p.Asn151Ser
XM_011533577.1:c.9821A>G	XP_011531879.1:p.Asn3274Ser
XM_017006129.1:c.9821A>G	XP_016861618.1:p.Asn3274Ser
XM_017006130.1:c.9752A>G	XP_016861619.1:p.Asn3251Ser
XM_017006131.1:c.9695A>G	XP_016861620.1:p.Asn3232Ser
XM_017006132.1:c.9821A>G	XP_016861621.1:p.Asn3274Ser
XR_001740098.1:n.12970A>G
XR_001740099.1:n.12970A>G