Canonical Allele Identifier: CA1528496040
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13913803C= , CM000667.2:g.13913803C= GRCh38
NC_000005.9:g.13913912C= , CM000667.1:g.13913912C= GRCh37
NC_000005.8:g.13966912C= NCBI36
NG_013081.1:g.35678G=
NG_013081.2:g.35678G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000680213.2:n.1532G=
ENST00000682376.1:n.5705G=
ENST00000683011.1:n.1415G=
ENST00000683967.1:n.3841G=
ENST00000684013.1:n.2136G=
ENST00000684099.1:n.2132G=
ENST00000265104.5:c.1476G= MANE Select ENSP00000265104.4:p.Thr492=
ENST00000680213.1:c.1236G= ENSP00000506622.1:p.Thr412=
ENST00000681290.1:c.1431G= ENSP00000505288.1:p.Thr477=
ENST00000265104.4:c.1476G= ENSP00000265104.4:p.Thr492=
ENST00000508040.1:n.1884G=
NM_001369.2:c.1476G= NP_001360.1:p.Thr492=
XM_005248262.2:c.1431G= XP_005248319.1:p.Thr477=
XM_011513990.1:c.1476G= XP_011512292.1:p.Thr492=
XR_925598.1:n.1683G=
XM_005248262.3:c.1584G= XP_005248319.2:p.Thr528=
XM_017009177.1:c.1584G= XP_016864666.1:p.Thr528=
XM_017009178.1:c.489G= XP_016864667.1:p.Thr163=
XM_017009179.2:c.489G= XP_016864668.1:p.Thr163=
XM_017009180.1:c.1584G= XP_016864669.1:p.Thr528=
XM_017009181.1:c.1584G= XP_016864670.1:p.Thr528=
XM_017009182.1:c.1584G= XP_016864671.1:p.Thr528=
XM_017009183.1:c.1584G= XP_016864672.1:p.Thr528=
XM_017009184.1:c.1584G= XP_016864673.1:p.Thr528=
XM_017009187.1:c.1584G= XP_016864676.1:p.Thr528=
XM_024454388.1:c.489G= XP_024310156.1:p.Thr163=
XM_024454389.1:c.78G= XP_024310157.1:p.Thr26=
XR_001742034.1:n.1601G=
XR_001742035.1:n.1601G=
NM_001369.3:c.1476G= MANE Select NP_001360.1:p.Thr492=