Canonical Allele Identifier: CA353080017

Gene: DNAH1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.52396797G>C , CM000665.2:g.52396797G>C	GRCh38
NC_000003.11:g.52430813G>C , CM000665.1:g.52430813G>C	GRCh37
NC_000003.10:g.52405853G>C	NCBI36
NG_052911.1:g.85479G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_015512.5:c.11610G>C MANE Select	NP_056327.4:p.Lys3870Asn
ENST00000420323.7:c.11610G>C MANE Select	ENSP00000401514.2:p.Lys3870Asn
NM_015512.4:c.11610G>C	NP_056327.4:p.Lys3870Asn
ENST00000420323.6:c.11610G>C	ENSP00000401514.2:p.Lys3870Asn
ENST00000486752.5:n.12067G>C
ENST00000488988.5:n.3396G>C
ENST00000490713.5:c.2310G>C	ENSP00000419071.1:p.Lys770Asn
XM_011533577.1:c.11679G>C	XP_011531879.1:p.Lys3893Asn
XM_017006129.1:c.11679G>C	XP_016861618.1:p.Lys3893Asn
XM_017006130.1:c.11610G>C	XP_016861619.1:p.Lys3870Asn
XM_017006131.1:c.11553G>C	XP_016861620.1:p.Lys3851Asn
XR_001740098.1:n.14828G>C
XR_001740099.1:n.14828G>C