Canonical Allele Identifier: CA1528435117
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776526G= , CM000667.2:g.13776526G= GRCh38
NC_000005.9:g.13776635G= , CM000667.1:g.13776635G= GRCh37
NC_000005.8:g.13829635G= NCBI36
NG_013081.1:g.172955C=
NG_013081.2:g.172955C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9286C= MANE Select ENSP00000265104.4:p.Arg3096=
ENST00000681290.1:c.9241C= ENSP00000505288.1:p.Arg3081=
ENST00000265104.4:c.9286C= ENSP00000265104.4:p.Arg3096=
NM_001369.2:c.9286C= NP_001360.1:p.Arg3096=
XM_005248262.2:c.9241C= XP_005248319.1:p.Arg3081=
XM_005248262.3:c.9394C= XP_005248319.2:p.Arg3132=
XM_017009177.1:c.9394C= XP_016864666.1:p.Arg3132=
XM_017009178.1:c.8299C= XP_016864667.1:p.Arg2767=
XM_017009179.2:c.8299C= XP_016864668.1:p.Arg2767=
XM_017009180.1:c.9394C= XP_016864669.1:p.Arg3132=
XM_017009181.1:c.9394C= XP_016864670.1:p.Arg3132=
XM_017009182.1:c.9394C= XP_016864671.1:p.Arg3132=
XM_017009183.1:c.9394C= XP_016864672.1:p.Arg3132=
XM_017009185.1:c.4483C= XP_016864674.1:p.Arg1495=
XM_017009186.1:c.4036C= XP_016864675.1:p.Arg1346=
XM_017009188.1:c.3373C= XP_016864677.1:p.Arg1125=
XM_024454388.1:c.8299C= XP_024310156.1:p.Arg2767=
XM_024454389.1:c.7888C= XP_024310157.1:p.Arg2630=
NM_001369.3:c.9286C= MANE Select NP_001360.1:p.Arg3096=