Canonical Allele Identifier: CA1528415136
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13735924G= , CM000667.2:g.13735924G= GRCh38
NC_000005.9:g.13736033G= , CM000667.1:g.13736033G= GRCh37
NC_000005.8:g.13789033G= NCBI36
NG_013081.1:g.213557C=
NG_013081.2:g.213557C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.11464C= MANE Select ENSP00000265104.4:p.Arg3822=
ENST00000681290.1:c.11419C= ENSP00000505288.1:p.Arg3807=
ENST00000265104.4:c.11464C= ENSP00000265104.4:p.Arg3822=
NM_001369.2:c.11464C= NP_001360.1:p.Arg3822=
XM_005248262.2:c.11419C= XP_005248319.1:p.Arg3807=
XM_005248262.3:c.11572C= XP_005248319.2:p.Arg3858=
XM_017009177.1:c.11572C= XP_016864666.1:p.Arg3858=
XM_017009178.1:c.10477C= XP_016864667.1:p.Arg3493=
XM_017009179.2:c.10477C= XP_016864668.1:p.Arg3493=
XM_017009180.1:c.11572C= XP_016864669.1:p.Arg3858=
XM_017009181.1:c.11572C= XP_016864670.1:p.Arg3858=
XM_017009182.1:c.11328C= XP_016864671.1:p.Arg3776=
XM_017009185.1:c.6661C= XP_016864674.1:p.Arg2221=
XM_017009186.1:c.6214C= XP_016864675.1:p.Arg2072=
XM_017009188.1:c.5551C= XP_016864677.1:p.Arg1851=
XM_024454388.1:c.10477C= XP_024310156.1:p.Arg3493=
XM_024454389.1:c.10066C= XP_024310157.1:p.Arg3356=
NM_001369.3:c.11464C= MANE Select NP_001360.1:p.Arg3822=