Canonical Allele Identifier: CA1528476502
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13870945C= , CM000667.2:g.13870945C= GRCh38
NC_000005.9:g.13871054C= , CM000667.1:g.13871054C= GRCh37
NC_000005.8:g.13924054C= NCBI36
NG_013081.1:g.78536G=
NG_013081.2:g.78536G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.3656G= MANE Select ENSP00000265104.4:p.Arg1219=
ENST00000681290.1:c.3611G= ENSP00000505288.1:p.Arg1204=
ENST00000265104.4:c.3656G= ENSP00000265104.4:p.Arg1219=
NM_001369.2:c.3656G= NP_001360.1:p.Arg1219=
XM_005248262.2:c.3611G= XP_005248319.1:p.Arg1204=
XM_011513990.1:c.3656G= XP_011512292.1:p.Arg1219=
XR_925598.1:n.3863G=
XM_005248262.3:c.3764G= XP_005248319.2:p.Arg1255=
XM_017009177.1:c.3764G= XP_016864666.1:p.Arg1255=
XM_017009178.1:c.2669G= XP_016864667.1:p.Arg890=
XM_017009179.2:c.2669G= XP_016864668.1:p.Arg890=
XM_017009180.1:c.3764G= XP_016864669.1:p.Arg1255=
XM_017009181.1:c.3764G= XP_016864670.1:p.Arg1255=
XM_017009182.1:c.3764G= XP_016864671.1:p.Arg1255=
XM_017009183.1:c.3764G= XP_016864672.1:p.Arg1255=
XM_017009184.1:c.3764G= XP_016864673.1:p.Arg1255=
XM_017009187.1:c.3764G= XP_016864676.1:p.Arg1255=
XM_024454388.1:c.2669G= XP_024310156.1:p.Arg890=
XM_024454389.1:c.2258G= XP_024310157.1:p.Arg753=
XR_001742034.1:n.3781G=
XR_001742035.1:n.3781G=
NM_001369.3:c.3656G= MANE Select NP_001360.1:p.Arg1219=