Canonical Allele Identifier: CA1528440980
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13792127C= , CM000667.2:g.13792127C= GRCh38
NC_000005.9:g.13792236C= , CM000667.1:g.13792236C= GRCh37
NC_000005.8:g.13845236C= NCBI36
NG_013081.1:g.157354G=
NG_013081.2:g.157354G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8315G= MANE Select ENSP00000265104.4:p.Arg2772=
ENST00000681290.1:c.8270G= ENSP00000505288.1:p.Arg2757=
ENST00000265104.4:c.8315G= ENSP00000265104.4:p.Arg2772=
NM_001369.2:c.8315G= NP_001360.1:p.Arg2772=
XM_005248262.2:c.8270G= XP_005248319.1:p.Arg2757=
XM_011513990.1:c.8315G= XP_011512292.1:p.Arg2772=
XR_925598.1:n.8522G=
XM_005248262.3:c.8423G= XP_005248319.2:p.Arg2808=
XM_017009177.1:c.8423G= XP_016864666.1:p.Arg2808=
XM_017009178.1:c.7328G= XP_016864667.1:p.Arg2443=
XM_017009179.2:c.7328G= XP_016864668.1:p.Arg2443=
XM_017009180.1:c.8423G= XP_016864669.1:p.Arg2808=
XM_017009181.1:c.8423G= XP_016864670.1:p.Arg2808=
XM_017009182.1:c.8423G= XP_016864671.1:p.Arg2808=
XM_017009183.1:c.8423G= XP_016864672.1:p.Arg2808=
XM_017009184.1:c.8423G= XP_016864673.1:p.Arg2808=
XM_017009185.1:c.3512G= XP_016864674.1:p.Arg1171=
XM_017009186.1:c.3065G= XP_016864675.1:p.Arg1022=
XM_017009188.1:c.2402G= XP_016864677.1:p.Arg801=
XM_024454388.1:c.7328G= XP_024310156.1:p.Arg2443=
XM_024454389.1:c.6917G= XP_024310157.1:p.Arg2306=
XR_001742034.1:n.8440G=
XR_001742035.1:n.8440G=
NM_001369.3:c.8315G= MANE Select NP_001360.1:p.Arg2772=