Canonical Allele Identifier: CA1528403761
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13708199G= , CM000667.2:g.13708199G= GRCh38
NC_000005.9:g.13708308G= , CM000667.1:g.13708308G= GRCh37
NC_000005.8:g.13761308G= NCBI36
NG_013081.1:g.241282C=
NG_013081.2:g.241282C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.595C=
ENST00000265104.5:c.13262C= MANE Select ENSP00000265104.4:p.Thr4421=
ENST00000681290.1:c.13217C= ENSP00000505288.1:p.Thr4406=
ENST00000265104.4:c.13262C= ENSP00000265104.4:p.Thr4421=
NM_001369.2:c.13262C= NP_001360.1:p.Thr4421=
XM_005248262.2:c.13217C= XP_005248319.1:p.Thr4406=
XM_005248262.3:c.13370C= XP_005248319.2:p.Thr4457=
XM_017009177.1:c.12950C= XP_016864666.1:p.Thr4317=
XM_017009178.1:c.12275C= XP_016864667.1:p.Thr4092=
XM_017009179.2:c.12275C= XP_016864668.1:p.Thr4092=
XM_017009185.1:c.8459C= XP_016864674.1:p.Thr2820=
XM_017009186.1:c.8012C= XP_016864675.1:p.Thr2671=
XM_017009188.1:c.7349C= XP_016864677.1:p.Thr2450=
XM_024454388.1:c.12275C= XP_024310156.1:p.Thr4092=
XM_024454389.1:c.11864C= XP_024310157.1:p.Thr3955=
NM_001369.3:c.13262C= MANE Select NP_001360.1:p.Thr4421=