Canonical Allele Identifier: CA1528451728
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13814801C= , CM000667.2:g.13814801C= GRCh38
NC_000005.9:g.13814910C= , CM000667.1:g.13814910C= GRCh37
NC_000005.8:g.13867910C= NCBI36
NG_013081.1:g.134680G=
NG_013081.2:g.134680G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.7034G= MANE Select ENSP00000265104.4:p.Trp2345=
ENST00000681290.1:c.6989G= ENSP00000505288.1:p.Trp2330=
ENST00000265104.4:c.7034G= ENSP00000265104.4:p.Trp2345=
NM_001369.2:c.7034G= NP_001360.1:p.Trp2345=
XM_005248262.2:c.6989G= XP_005248319.1:p.Trp2330=
XM_011513990.1:c.7034G= XP_011512292.1:p.Trp2345=
XR_925598.1:n.7241G=
XM_005248262.3:c.7142G= XP_005248319.2:p.Trp2381=
XM_017009177.1:c.7142G= XP_016864666.1:p.Trp2381=
XM_017009178.1:c.6047G= XP_016864667.1:p.Trp2016=
XM_017009179.2:c.6047G= XP_016864668.1:p.Trp2016=
XM_017009180.1:c.7142G= XP_016864669.1:p.Trp2381=
XM_017009181.1:c.7142G= XP_016864670.1:p.Trp2381=
XM_017009182.1:c.7142G= XP_016864671.1:p.Trp2381=
XM_017009183.1:c.7142G= XP_016864672.1:p.Trp2381=
XM_017009184.1:c.7142G= XP_016864673.1:p.Trp2381=
XM_017009185.1:c.2231G= XP_016864674.1:p.Trp744=
XM_017009186.1:c.1784G= XP_016864675.1:p.Trp595=
XM_017009187.1:c.7142G= XP_016864676.1:p.Trp2381=
XM_017009188.1:c.1121G= XP_016864677.1:p.Trp374=
XM_024454388.1:c.6047G= XP_024310156.1:p.Trp2016=
XM_024454389.1:c.5636G= XP_024310157.1:p.Trp1879=
XR_001742034.1:n.7159G=
XR_001742035.1:n.7159G=
NM_001369.3:c.7034G= MANE Select NP_001360.1:p.Trp2345=