Canonical Allele Identifier: CA1528498267
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13919051T= , CM000667.2:g.13919051T= GRCh38
NC_000005.9:g.13919160T= , CM000667.1:g.13919160T= GRCh37
NC_000005.8:g.13972160T= NCBI36
NG_013081.1:g.30430A=
NG_013081.2:g.30430A=

Transcript Alleles

HGVS Amino-acid Change
ENST00000680213.2:n.1031+125A=
ENST00000682376.1:n.1144A=
ENST00000682586.1:n.1193A=
ENST00000683011.1:n.914+125A=
ENST00000683967.1:n.1074+125A=
ENST00000684013.1:n.1074+125A=
ENST00000684099.1:n.1070+125A=
ENST00000265104.5:c.975+125A= MANE Select ENSP00000265104.4:n.975+125A=
ENST00000680213.1:c.735+125A= ENSP00000506622.1:n.735+125A=
ENST00000681290.1:c.930+125A= ENSP00000505288.1:n.930+125A=
ENST00000265104.4:c.975+125A= ENSP00000265104.4:n.975+125A=
ENST00000508040.1:n.1383+125A=
NM_001369.2:c.975+125A= NP_001360.1:n.975+125A=
XM_005248262.2:c.930+125A= XP_005248319.1:n.930+125A=
XM_011513990.1:c.975+125A= XP_011512292.1:n.975+125A=
XR_925598.1:n.1182+125A=
XM_005248262.3:c.1083+125A= XP_005248319.2:n.1083+125A=
XM_017009177.1:c.1083+125A= XP_016864666.1:n.1083+125A=
XM_017009178.1:c.-13+125A= XP_016864667.1:n.-13+125A=
XM_017009179.2:c.-91A= XP_016864668.1:n.-91A=
XM_017009180.1:c.1083+125A= XP_016864669.1:n.1083+125A=
XM_017009181.1:c.1083+125A= XP_016864670.1:n.1083+125A=
XM_017009182.1:c.1083+125A= XP_016864671.1:n.1083+125A=
XM_017009183.1:c.1083+125A= XP_016864672.1:n.1083+125A=
XM_017009184.1:c.1083+125A= XP_016864673.1:n.1083+125A=
XM_017009187.1:c.1083+125A= XP_016864676.1:n.1083+125A=
XM_024454388.1:c.-1807A= XP_024310156.1:n.-1807A=
XM_024454389.1:c.-985+125A= XP_024310157.1:n.-985+125A=
XR_001742034.1:n.1100+125A=
XR_001742035.1:n.1100+125A=
NM_001369.3:c.975+125A= MANE Select NP_001360.1:n.975+125A=