Canonical Allele Identifier: CA1528435880
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780915G= , CM000667.2:g.13780915G= GRCh38
NC_000005.9:g.13781024G= , CM000667.1:g.13781024G= GRCh37
NC_000005.8:g.13834024G= NCBI36
NG_013081.1:g.168566C=
NG_013081.2:g.168566C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8865C= MANE Select ENSP00000265104.4:p.Val2955=
ENST00000681290.1:c.8820C= ENSP00000505288.1:p.Val2940=
ENST00000265104.4:c.8865C= ENSP00000265104.4:p.Val2955=
NM_001369.2:c.8865C= NP_001360.1:p.Val2955=
XM_005248262.2:c.8820C= XP_005248319.1:p.Val2940=
XM_011513990.1:c.8865C= XP_011512292.1:p.Val2955=
XR_925598.1:n.9028-3560C=
XM_005248262.3:c.8973C= XP_005248319.2:p.Val2991=
XM_017009177.1:c.8973C= XP_016864666.1:p.Val2991=
XM_017009178.1:c.7878C= XP_016864667.1:p.Val2626=
XM_017009179.2:c.7878C= XP_016864668.1:p.Val2626=
XM_017009180.1:c.8973C= XP_016864669.1:p.Val2991=
XM_017009181.1:c.8973C= XP_016864670.1:p.Val2991=
XM_017009182.1:c.8973C= XP_016864671.1:p.Val2991=
XM_017009183.1:c.8973C= XP_016864672.1:p.Val2991=
XM_017009184.1:c.8973C= XP_016864673.1:p.Val2991=
XM_017009185.1:c.4062C= XP_016864674.1:p.Val1354=
XM_017009186.1:c.3615C= XP_016864675.1:p.Val1205=
XM_017009188.1:c.2952C= XP_016864677.1:p.Val984=
XM_024454388.1:c.7878C= XP_024310156.1:p.Val2626=
XM_024454389.1:c.7467C= XP_024310157.1:p.Val2489=
XR_001742034.1:n.8946-3560C=
XR_001742035.1:n.8946-3560C=
NM_001369.3:c.8865C= MANE Select NP_001360.1:p.Val2955=