Canonical Allele Identifier: CA2436262

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52396972C>T , CM000665.2:g.52396972C>T	GRCh38
NC_000003.11:g.52430988C>T , CM000665.1:g.52430988C>T	GRCh37
NC_000003.10:g.52406028C>T	NCBI36
NG_052911.1:g.85654C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.11715C>T MANE Select	NP_056327.4:p.Asp3905=
ENST00000420323.7:c.11715C>T MANE Select	ENSP00000401514.2:p.Asp3905=
NM_015512.4:c.11715C>T	NP_056327.4:p.Asp3905=
ENST00000420323.6:c.11715C>T	ENSP00000401514.2:p.Asp3905=
ENST00000486752.5:n.12172C>T
ENST00000488988.5:n.3501C>T
ENST00000490713.5:c.2415C>T	ENSP00000419071.1:p.Asp805=
XM_011533577.1:c.11784C>T	XP_011531879.1:p.Asp3928=
XM_017006129.1:c.11784C>T	XP_016861618.1:p.Asp3928=
XM_017006130.1:c.11715C>T	XP_016861619.1:p.Asp3905=
XM_017006131.1:c.11658C>T	XP_016861620.1:p.Asp3886=
XR_001740098.1:n.14933C>T
XR_001740099.1:n.14933C>T