Canonical Allele Identifier: CA2434962

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52381773A>G , CM000665.2:g.52381773A>G	GRCh38
NC_000003.11:g.52415789A>G , CM000665.1:g.52415789A>G	GRCh37
NC_000003.10:g.52390829A>G	NCBI36
NG_052911.1:g.70455A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.7742A>G MANE Select	NP_056327.4:p.Asn2581Ser
ENST00000420323.7:c.7742A>G MANE Select	ENSP00000401514.2:p.Asn2581Ser
NM_015512.4:c.7742A>G	NP_056327.4:p.Asn2581Ser
ENST00000420323.6:c.7742A>G	ENSP00000401514.2:p.Asn2581Ser
ENST00000486752.5:n.8003A>G
XM_011533577.1:c.7811A>G	XP_011531879.1:p.Asn2604Ser
XM_017006129.1:c.7811A>G	XP_016861618.1:p.Asn2604Ser
XM_017006130.1:c.7742A>G	XP_016861619.1:p.Asn2581Ser
XM_017006131.1:c.7811A>G	XP_016861620.1:p.Asn2604Ser
XM_017006132.1:c.7811A>G	XP_016861621.1:p.Asn2604Ser
XM_017006133.1:c.7811A>G	XP_016861622.1:p.Asn2604Ser
XR_001740098.1:n.10960A>G
XR_001740099.1:n.10960A>G