Canonical Allele Identifier: CA433884950

Gene: DNAH1

Linked Data

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52394972C>T , CM000665.2:g.52394972C>T	GRCh38
NC_000003.11:g.52428988C>T , CM000665.1:g.52428988C>T	GRCh37
NC_000003.10:g.52404028C>T	NCBI36
NG_052911.1:g.83654C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000420323.7:c.10881C>T MANE Select	ENSP00000401514.2:p.Val3627=
ENST00000420323.6:c.10881C>T	ENSP00000401514.2:p.Val3627=
ENST00000486752.5:n.11338C>T
ENST00000487254.1:n.376C>T
ENST00000488988.5:n.2667C>T
ENST00000490713.5:c.1581C>T	ENSP00000419071.1:p.Val527=
NM_015512.4:c.10881C>T	NP_056327.4:p.Val3627=
XM_011533577.1:c.10950C>T	XP_011531879.1:p.Val3650=
XM_017006129.1:c.10950C>T	XP_016861618.1:p.Val3650=
XM_017006130.1:c.10881C>T	XP_016861619.1:p.Val3627=
XM_017006131.1:c.10824C>T	XP_016861620.1:p.Val3608=
XR_001740098.1:n.14099C>T
XR_001740099.1:n.14099C>T
NM_015512.5:c.10881C>T MANE Select	NP_056327.4:p.Val3627=