Canonical Allele Identifier: CA3204267

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13871724G>C , CM000667.2:g.13871724G>C	GRCh38
NC_000005.9:g.13871833G>C , CM000667.1:g.13871833G>C	GRCh37
NC_000005.8:g.13924833G>C	NCBI36
NG_013081.1:g.77757C>G
NG_013081.2:g.77757C>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.3438C>G MANE Select	NP_001360.1:p.His1146Gln
ENST00000265104.5:c.3438C>G MANE Select	ENSP00000265104.4:p.His1146Gln
NM_001369.2:c.3438C>G	NP_001360.1:p.His1146Gln
ENST00000265104.4:c.3438C>G	ENSP00000265104.4:p.His1146Gln
ENST00000681290.1:c.3393C>G	ENSP00000505288.1:p.His1131Gln
XM_005248262.2:c.3393C>G	XP_005248319.1:p.His1131Gln
XM_005248262.3:c.3546C>G	XP_005248319.2:p.His1182Gln
XM_011513990.1:c.3438C>G	XP_011512292.1:p.His1146Gln
XM_017009177.1:c.3546C>G	XP_016864666.1:p.His1182Gln
XM_017009178.1:c.2451C>G	XP_016864667.1:p.His817Gln
XM_017009179.2:c.2451C>G	XP_016864668.1:p.His817Gln
XM_017009180.1:c.3546C>G	XP_016864669.1:p.His1182Gln
XM_017009181.1:c.3546C>G	XP_016864670.1:p.His1182Gln
XM_017009182.1:c.3546C>G	XP_016864671.1:p.His1182Gln
XM_017009183.1:c.3546C>G	XP_016864672.1:p.His1182Gln
XM_017009184.1:c.3546C>G	XP_016864673.1:p.His1182Gln
XM_017009187.1:c.3546C>G	XP_016864676.1:p.His1182Gln
XM_024454388.1:c.2451C>G	XP_024310156.1:p.His817Gln
XM_024454389.1:c.2040C>G	XP_024310157.1:p.His680Gln
XR_001742034.1:n.3563C>G
XR_001742035.1:n.3563C>G
XR_925598.1:n.3645C>G