Canonical Allele Identifier: CA2435009

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52382378C>T , CM000665.2:g.52382378C>T	GRCh38
NC_000003.11:g.52416394C>T , CM000665.1:g.52416394C>T	GRCh37
NC_000003.10:g.52391434C>T	NCBI36
NG_052911.1:g.71060C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.7864C>T MANE Select	NP_056327.4:p.Arg2622Ter
ENST00000420323.7:c.7864C>T MANE Select	ENSP00000401514.2:p.Arg2622Ter
NM_015512.4:c.7864C>T	NP_056327.4:p.Arg2622Ter
ENST00000420323.6:c.7864C>T	ENSP00000401514.2:p.Arg2622Ter
ENST00000486752.5:n.8125C>T
XM_011533577.1:c.7933C>T	XP_011531879.1:p.Arg2645Ter
XM_017006129.1:c.7933C>T	XP_016861618.1:p.Arg2645Ter
XM_017006130.1:c.7864C>T	XP_016861619.1:p.Arg2622Ter
XM_017006131.1:c.7933C>T	XP_016861620.1:p.Arg2645Ter
XM_017006132.1:c.7933C>T	XP_016861621.1:p.Arg2645Ter
XM_017006133.1:c.7933C>T	XP_016861622.1:p.Arg2645Ter
XR_001740098.1:n.11082C>T
XR_001740099.1:n.11082C>T