Canonical Allele Identifier: CA2435576

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52389575C>T , CM000665.2:g.52389575C>T	GRCh38
NC_000003.11:g.52423591C>T , CM000665.1:g.52423591C>T	GRCh37
NC_000003.10:g.52398631C>T	NCBI36
NG_052911.1:g.78257C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.9610C>T MANE Select	NP_056327.4:p.Arg3204Ter
ENST00000420323.7:c.9610C>T MANE Select	ENSP00000401514.2:p.Arg3204Ter
NM_015512.4:c.9610C>T	NP_056327.4:p.Arg3204Ter
ENST00000420323.6:c.9610C>T	ENSP00000401514.2:p.Arg3204Ter
ENST00000480649.1:c.55+638C>T
ENST00000486752.5:n.10067C>T
ENST00000488988.5:n.1396C>T
ENST00000490713.5:c.310C>T	ENSP00000419071.1:p.Arg104Ter
XM_011533577.1:c.9679C>T	XP_011531879.1:p.Arg3227Ter
XM_017006129.1:c.9679C>T	XP_016861618.1:p.Arg3227Ter
XM_017006130.1:c.9610C>T	XP_016861619.1:p.Arg3204Ter
XM_017006131.1:c.9564+638C>T	XP_016861620.1:n.9564+638C>T
XM_017006132.1:c.9679C>T	XP_016861621.1:p.Arg3227Ter
XM_017006133.1:c.9679C>T	XP_016861622.1:p.Arg3227Ter
XR_001740098.1:n.12828C>T
XR_001740099.1:n.12828C>T