Canonical Allele Identifier: CA1364817272
Gene: DNAH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.52353540C= , CM000665.2:g.52353540C= GRCh38
NC_000003.11:g.52387556C= , CM000665.1:g.52387556C= GRCh37
NC_000003.10:g.52362596C= NCBI36
NG_052911.1:g.42222C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000420323.7:c.3387C= MANE Select ENSP00000401514.2:p.Thr1129=
ENST00000420323.6:c.3387C= ENSP00000401514.2:p.Thr1129=
ENST00000486752.5:n.3648C=
ENST00000497875.1:n.3552C=
NM_015512.4:c.3387C= NP_056327.4:p.Thr1129=
XM_011533577.1:c.3387C= XP_011531879.1:p.Thr1129=
XM_017006129.1:c.3387C= XP_016861618.1:p.Thr1129=
XM_017006130.1:c.3387C= XP_016861619.1:p.Thr1129=
XM_017006131.1:c.3387C= XP_016861620.1:p.Thr1129=
XM_017006132.1:c.3387C= XP_016861621.1:p.Thr1129=
XM_017006133.1:c.3387C= XP_016861622.1:p.Thr1129=
XR_001740098.1:n.6536C=
XR_001740099.1:n.6536C=
NM_015512.5:c.3387C= MANE Select NP_056327.4:p.Thr1129=