Canonical Allele Identifier: CA1528403774
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13708239G= , CM000667.2:g.13708239G= GRCh38
NC_000005.9:g.13708348G= , CM000667.1:g.13708348G= GRCh37
NC_000005.8:g.13761348G= NCBI36
NG_013081.1:g.241242C=
NG_013081.2:g.241242C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.555C=
ENST00000265104.5:c.13222C= MANE Select ENSP00000265104.4:p.Arg4408=
ENST00000681290.1:c.13177C= ENSP00000505288.1:p.Arg4393=
ENST00000265104.4:c.13222C= ENSP00000265104.4:p.Arg4408=
NM_001369.2:c.13222C= NP_001360.1:p.Arg4408=
XM_005248262.2:c.13177C= XP_005248319.1:p.Arg4393=
XM_005248262.3:c.13330C= XP_005248319.2:p.Arg4444=
XM_017009177.1:c.12910C= XP_016864666.1:p.Arg4304=
XM_017009178.1:c.12235C= XP_016864667.1:p.Arg4079=
XM_017009179.2:c.12235C= XP_016864668.1:p.Arg4079=
XM_017009185.1:c.8419C= XP_016864674.1:p.Arg2807=
XM_017009186.1:c.7972C= XP_016864675.1:p.Arg2658=
XM_017009188.1:c.7309C= XP_016864677.1:p.Arg2437=
XM_024454388.1:c.12235C= XP_024310156.1:p.Arg4079=
XM_024454389.1:c.11824C= XP_024310157.1:p.Arg3942=
NM_001369.3:c.13222C= MANE Select NP_001360.1:p.Arg4408=