Canonical Allele Identifier: CA1528423462
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13753309C= , CM000667.2:g.13753309C= GRCh38
NC_000005.9:g.13753418C= , CM000667.1:g.13753418C= GRCh37
NC_000005.8:g.13806418C= NCBI36
NG_013081.1:g.196172G=
NG_013081.2:g.196172G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10796G= MANE Select ENSP00000265104.4:p.Arg3599=
ENST00000681290.1:c.10751G= ENSP00000505288.1:p.Arg3584=
ENST00000265104.4:c.10796G= ENSP00000265104.4:p.Arg3599=
NM_001369.2:c.10796G= NP_001360.1:p.Arg3599=
XM_005248262.2:c.10751G= XP_005248319.1:p.Arg3584=
XM_005248262.3:c.10904G= XP_005248319.2:p.Arg3635=
XM_017009177.1:c.10904G= XP_016864666.1:p.Arg3635=
XM_017009178.1:c.9809G= XP_016864667.1:p.Arg3270=
XM_017009179.2:c.9809G= XP_016864668.1:p.Arg3270=
XM_017009180.1:c.10904G= XP_016864669.1:p.Arg3635=
XM_017009181.1:c.10904G= XP_016864670.1:p.Arg3635=
XM_017009182.1:c.10904G= XP_016864671.1:p.Arg3635=
XM_017009185.1:c.5993G= XP_016864674.1:p.Arg1998=
XM_017009186.1:c.5546G= XP_016864675.1:p.Arg1849=
XM_017009188.1:c.4883G= XP_016864677.1:p.Arg1628=
XM_024454388.1:c.9809G= XP_024310156.1:p.Arg3270=
XM_024454389.1:c.9398G= XP_024310157.1:p.Arg3133=
NM_001369.3:c.10796G= MANE Select NP_001360.1:p.Arg3599=