Canonical Allele Identifier: CA1528395845
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13692016G= , CM000667.2:g.13692016G= GRCh38
NC_000005.9:g.13692125G= , CM000667.1:g.13692125G= GRCh37
NC_000005.8:g.13745125G= NCBI36
NG_013081.1:g.257465C=
NG_013081.2:g.257465C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683611.1:n.1176C=
ENST00000265104.5:c.13843C= MANE Select ENSP00000265104.4:p.Arg4615=
ENST00000681290.1:c.13798C= ENSP00000505288.1:p.Arg4600=
ENST00000265104.4:c.13843C= ENSP00000265104.4:p.Arg4615=
NM_001369.2:c.13843C= NP_001360.1:p.Arg4615=
XM_005248262.2:c.13798C= XP_005248319.1:p.Arg4600=
XM_005248262.3:c.13951C= XP_005248319.2:p.Arg4651=
XM_017009177.1:c.13531C= XP_016864666.1:p.Arg4511=
XM_017009178.1:c.12856C= XP_016864667.1:p.Arg4286=
XM_017009179.2:c.12856C= XP_016864668.1:p.Arg4286=
XM_017009185.1:c.9040C= XP_016864674.1:p.Arg3014=
XM_017009186.1:c.8593C= XP_016864675.1:p.Arg2865=
XM_017009188.1:c.7930C= XP_016864677.1:p.Arg2644=
XM_024454388.1:c.12856C= XP_024310156.1:p.Arg4286=
XM_024454389.1:c.12445C= XP_024310157.1:p.Arg4149=
NM_001369.3:c.13843C= MANE Select NP_001360.1:p.Arg4615=