Canonical Allele Identifier: CA1528490476
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13901474C= , CM000667.2:g.13901474C= GRCh38
NC_000005.9:g.13901583C= , CM000667.1:g.13901583C= GRCh37
NC_000005.8:g.13954583C= NCBI36
NG_013081.1:g.48007G=
NG_013081.2:g.48007G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.1830G= MANE Select ENSP00000265104.4:p.Gln610=
ENST00000681290.1:c.1785G= ENSP00000505288.1:p.Gln595=
ENST00000265104.4:c.1830G= ENSP00000265104.4:p.Gln610=
NM_001369.2:c.1830G= NP_001360.1:p.Gln610=
XM_005248262.2:c.1785G= XP_005248319.1:p.Gln595=
XM_011513990.1:c.1830G= XP_011512292.1:p.Gln610=
XR_925598.1:n.2037G=
XM_005248262.3:c.1938G= XP_005248319.2:p.Gln646=
XM_017009177.1:c.1938G= XP_016864666.1:p.Gln646=
XM_017009178.1:c.843G= XP_016864667.1:p.Gln281=
XM_017009179.2:c.843G= XP_016864668.1:p.Gln281=
XM_017009180.1:c.1938G= XP_016864669.1:p.Gln646=
XM_017009181.1:c.1938G= XP_016864670.1:p.Gln646=
XM_017009182.1:c.1938G= XP_016864671.1:p.Gln646=
XM_017009183.1:c.1938G= XP_016864672.1:p.Gln646=
XM_017009184.1:c.1938G= XP_016864673.1:p.Gln646=
XM_017009187.1:c.1938G= XP_016864676.1:p.Gln646=
XM_024454388.1:c.843G= XP_024310156.1:p.Gln281=
XM_024454389.1:c.432G= XP_024310157.1:p.Gln144=
XR_001742034.1:n.1955G=
XR_001742035.1:n.1955G=
NM_001369.3:c.1830G= MANE Select NP_001360.1:p.Gln610=