Canonical Allele Identifier: CA1528458777
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13830675G= , CM000667.2:g.13830675G= GRCh38
NC_000005.9:g.13830784G= , CM000667.1:g.13830784G= GRCh37
NC_000005.8:g.13883784G= NCBI36
NG_013081.1:g.118806C=
NG_013081.2:g.118806C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000683090.1:n.914C=
ENST00000265104.5:c.5983C= MANE Select ENSP00000265104.4:p.Arg1995=
ENST00000681290.1:c.5938C= ENSP00000505288.1:p.Arg1980=
ENST00000265104.4:c.5983C= ENSP00000265104.4:p.Arg1995=
NM_001369.2:c.5983C= NP_001360.1:p.Arg1995=
XM_005248262.2:c.5938C= XP_005248319.1:p.Arg1980=
XM_011513990.1:c.5983C= XP_011512292.1:p.Arg1995=
XR_925598.1:n.6190C=
XM_005248262.3:c.6091C= XP_005248319.2:p.Arg2031=
XM_017009177.1:c.6091C= XP_016864666.1:p.Arg2031=
XM_017009178.1:c.4996C= XP_016864667.1:p.Arg1666=
XM_017009179.2:c.4996C= XP_016864668.1:p.Arg1666=
XM_017009180.1:c.6091C= XP_016864669.1:p.Arg2031=
XM_017009181.1:c.6091C= XP_016864670.1:p.Arg2031=
XM_017009182.1:c.6091C= XP_016864671.1:p.Arg2031=
XM_017009183.1:c.6091C= XP_016864672.1:p.Arg2031=
XM_017009184.1:c.6091C= XP_016864673.1:p.Arg2031=
XM_017009185.1:c.1180C= XP_016864674.1:p.Arg394=
XM_017009186.1:c.733C= XP_016864675.1:p.Arg245=
XM_017009187.1:c.6091C= XP_016864676.1:p.Arg2031=
XM_017009188.1:c.70C= XP_016864677.1:p.Arg24=
XM_024454388.1:c.4996C= XP_024310156.1:p.Arg1666=
XM_024454389.1:c.4585C= XP_024310157.1:p.Arg1529=
XR_001742034.1:n.6108C=
XR_001742035.1:n.6108C=
NM_001369.3:c.5983C= MANE Select NP_001360.1:p.Arg1995=