Canonical Allele Identifier: CA1528399886
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13701294G= , CM000667.2:g.13701294G= GRCh38
NC_000005.9:g.13701403G= , CM000667.1:g.13701403G= GRCh37
NC_000005.8:g.13754403G= NCBI36
NG_013081.1:g.248187C=
NG_013081.2:g.248187C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.814C=
ENST00000265104.5:c.13481C= MANE Select ENSP00000265104.4:p.Ala4494=
ENST00000681290.1:c.13436C= ENSP00000505288.1:p.Ala4479=
ENST00000265104.4:c.13481C= ENSP00000265104.4:p.Ala4494=
NM_001369.2:c.13481C= NP_001360.1:p.Ala4494=
XM_005248262.2:c.13436C= XP_005248319.1:p.Ala4479=
XM_005248262.3:c.13589C= XP_005248319.2:p.Ala4530=
XM_017009177.1:c.13169C= XP_016864666.1:p.Ala4390=
XM_017009178.1:c.12494C= XP_016864667.1:p.Ala4165=
XM_017009179.2:c.12494C= XP_016864668.1:p.Ala4165=
XM_017009185.1:c.8678C= XP_016864674.1:p.Ala2893=
XM_017009186.1:c.8231C= XP_016864675.1:p.Ala2744=
XM_017009188.1:c.7568C= XP_016864677.1:p.Ala2523=
XM_024454388.1:c.12494C= XP_024310156.1:p.Ala4165=
XM_024454389.1:c.12083C= XP_024310157.1:p.Ala4028=
NM_001369.3:c.13481C= MANE Select NP_001360.1:p.Ala4494=