Canonical Allele Identifier: CA1528458410
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13841830C= , CM000667.2:g.13841830C= GRCh38
NC_000005.9:g.13841939C= , CM000667.1:g.13841939C= GRCh37
NC_000005.8:g.13894939C= NCBI36
NG_013081.1:g.107651G=
NG_013081.2:g.107651G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.5346G= MANE Select ENSP00000265104.4:p.Glu1782=
ENST00000681290.1:c.5301G= ENSP00000505288.1:p.Glu1767=
ENST00000265104.4:c.5346G= ENSP00000265104.4:p.Glu1782=
NM_001369.2:c.5346G= NP_001360.1:p.Glu1782=
XM_005248262.2:c.5301G= XP_005248319.1:p.Glu1767=
XM_011513990.1:c.5346G= XP_011512292.1:p.Glu1782=
XR_925598.1:n.5553G=
XM_005248262.3:c.5454G= XP_005248319.2:p.Glu1818=
XM_017009177.1:c.5454G= XP_016864666.1:p.Glu1818=
XM_017009178.1:c.4359G= XP_016864667.1:p.Glu1453=
XM_017009179.2:c.4359G= XP_016864668.1:p.Glu1453=
XM_017009180.1:c.5454G= XP_016864669.1:p.Glu1818=
XM_017009181.1:c.5454G= XP_016864670.1:p.Glu1818=
XM_017009182.1:c.5454G= XP_016864671.1:p.Glu1818=
XM_017009183.1:c.5454G= XP_016864672.1:p.Glu1818=
XM_017009184.1:c.5454G= XP_016864673.1:p.Glu1818=
XM_017009185.1:c.543G= XP_016864674.1:p.Glu181=
XM_017009186.1:c.96G= XP_016864675.1:p.Glu32=
XM_017009187.1:c.5454G= XP_016864676.1:p.Glu1818=
XM_024454388.1:c.4359G= XP_024310156.1:p.Glu1453=
XM_024454389.1:c.3948G= XP_024310157.1:p.Glu1316=
XR_001742034.1:n.5471G=
XR_001742035.1:n.5471G=
NM_001369.3:c.5346G= MANE Select NP_001360.1:p.Glu1782=