Canonical Allele Identifier: CA359211434
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841773A>C , CM000667.2:g.13841773A>C GRCh38
NC_000005.9:g.13841882A>C , CM000667.1:g.13841882A>C GRCh37
NC_000005.8:g.13894882A>C NCBI36
NG_013081.1:g.107708T>G
NG_013081.2:g.107708T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.5403T>G MANE Select ENSP00000265104.4:p.His1801Gln
ENST00000681290.1:c.5358T>G ENSP00000505288.1:p.His1786Gln
ENST00000265104.4:c.5403T>G ENSP00000265104.4:p.His1801Gln
NM_001369.2:c.5403T>G NP_001360.1:p.His1801Gln
XM_005248262.2:c.5358T>G XP_005248319.1:p.His1786Gln
XM_011513990.1:c.5403T>G XP_011512292.1:p.His1801Gln
XR_925598.1:n.5610T>G
XM_005248262.3:c.5511T>G XP_005248319.2:p.His1837Gln
XM_017009177.1:c.5511T>G XP_016864666.1:p.His1837Gln
XM_017009178.1:c.4416T>G XP_016864667.1:p.His1472Gln
XM_017009179.2:c.4416T>G XP_016864668.1:p.His1472Gln
XM_017009180.1:c.5511T>G XP_016864669.1:p.His1837Gln
XM_017009181.1:c.5511T>G XP_016864670.1:p.His1837Gln
XM_017009182.1:c.5511T>G XP_016864671.1:p.His1837Gln
XM_017009183.1:c.5511T>G XP_016864672.1:p.His1837Gln
XM_017009184.1:c.5511T>G XP_016864673.1:p.His1837Gln
XM_017009185.1:c.600T>G XP_016864674.1:p.His200Gln
XM_017009186.1:c.153T>G XP_016864675.1:p.His51Gln
XM_017009187.1:c.5511T>G XP_016864676.1:p.His1837Gln
XM_024454388.1:c.4416T>G XP_024310156.1:p.His1472Gln
XM_024454389.1:c.4005T>G XP_024310157.1:p.His1335Gln
XR_001742034.1:n.5528T>G
XR_001742035.1:n.5528T>G
NM_001369.3:c.5403T>G MANE Select NP_001360.1:p.His1801Gln