Canonical Allele Identifier: CA1528435421
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776688G= , CM000667.2:g.13776688G= GRCh38
NC_000005.9:g.13776797G= , CM000667.1:g.13776797G= GRCh37
NC_000005.8:g.13829797G= NCBI36
NG_013081.1:g.172793C=
NG_013081.2:g.172793C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9124C= MANE Select ENSP00000265104.4:p.Arg3042=
ENST00000681290.1:c.9079C= ENSP00000505288.1:p.Arg3027=
ENST00000265104.4:c.9124C= ENSP00000265104.4:p.Arg3042=
NM_001369.2:c.9124C= NP_001360.1:p.Arg3042=
XM_005248262.2:c.9079C= XP_005248319.1:p.Arg3027=
XM_011513990.1:c.*11C= XP_011512292.1:n.*11C=
XR_925598.1:n.9195C=
XM_005248262.3:c.9232C= XP_005248319.2:p.Arg3078=
XM_017009177.1:c.9232C= XP_016864666.1:p.Arg3078=
XM_017009178.1:c.8137C= XP_016864667.1:p.Arg2713=
XM_017009179.2:c.8137C= XP_016864668.1:p.Arg2713=
XM_017009180.1:c.9232C= XP_016864669.1:p.Arg3078=
XM_017009181.1:c.9232C= XP_016864670.1:p.Arg3078=
XM_017009182.1:c.9232C= XP_016864671.1:p.Arg3078=
XM_017009183.1:c.9232C= XP_016864672.1:p.Arg3078=
XM_017009184.1:c.*11C= XP_016864673.1:n.*11C=
XM_017009185.1:c.4321C= XP_016864674.1:p.Arg1441=
XM_017009186.1:c.3874C= XP_016864675.1:p.Arg1292=
XM_017009188.1:c.3211C= XP_016864677.1:p.Arg1071=
XM_024454388.1:c.8137C= XP_024310156.1:p.Arg2713=
XM_024454389.1:c.7726C= XP_024310157.1:p.Arg2576=
XR_001742034.1:n.9118C=
XR_001742035.1:n.9113C=
NM_001369.3:c.9124C= MANE Select NP_001360.1:p.Arg3042=