Canonical Allele Identifier: CA1528498271
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13919062G= , CM000667.2:g.13919062G= GRCh38
NC_000005.9:g.13919171G= , CM000667.1:g.13919171G= GRCh37
NC_000005.8:g.13972171G= NCBI36
NG_013081.1:g.30419C=
NG_013081.2:g.30419C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000680213.2:n.1031+114C=
ENST00000682376.1:n.1133C=
ENST00000682586.1:n.1182C=
ENST00000683011.1:n.914+114C=
ENST00000683967.1:n.1074+114C=
ENST00000684013.1:n.1074+114C=
ENST00000684099.1:n.1070+114C=
ENST00000265104.5:c.975+114C= MANE Select ENSP00000265104.4:n.975+114C=
ENST00000680213.1:c.735+114C= ENSP00000506622.1:n.735+114C=
ENST00000681290.1:c.930+114C= ENSP00000505288.1:n.930+114C=
ENST00000265104.4:c.975+114C= ENSP00000265104.4:n.975+114C=
ENST00000508040.1:n.1383+114C=
NM_001369.2:c.975+114C= NP_001360.1:n.975+114C=
XM_005248262.2:c.930+114C= XP_005248319.1:n.930+114C=
XM_011513990.1:c.975+114C= XP_011512292.1:n.975+114C=
XR_925598.1:n.1182+114C=
XM_005248262.3:c.1083+114C= XP_005248319.2:n.1083+114C=
XM_017009177.1:c.1083+114C= XP_016864666.1:n.1083+114C=
XM_017009178.1:c.-13+114C= XP_016864667.1:n.-13+114C=
XM_017009179.2:c.-102C= XP_016864668.1:n.-102C=
XM_017009180.1:c.1083+114C= XP_016864669.1:n.1083+114C=
XM_017009181.1:c.1083+114C= XP_016864670.1:n.1083+114C=
XM_017009182.1:c.1083+114C= XP_016864671.1:n.1083+114C=
XM_017009183.1:c.1083+114C= XP_016864672.1:n.1083+114C=
XM_017009184.1:c.1083+114C= XP_016864673.1:n.1083+114C=
XM_017009187.1:c.1083+114C= XP_016864676.1:n.1083+114C=
XM_024454388.1:c.-1818C= XP_024310156.1:n.-1818C=
XM_024454389.1:c.-985+114C= XP_024310157.1:n.-985+114C=
XR_001742034.1:n.1100+114C=
XR_001742035.1:n.1100+114C=
NM_001369.3:c.975+114C= MANE Select NP_001360.1:n.975+114C=