Canonical Allele Identifier: CA1528431112
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13770637G= , CM000667.2:g.13770637G= GRCh38
NC_000005.9:g.13770746G= , CM000667.1:g.13770746G= GRCh37
NC_000005.8:g.13823746G= NCBI36
NG_013081.1:g.178844C=
NG_013081.2:g.178844C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9605+112C= MANE Select ENSP00000265104.4:n.9605+112C=
ENST00000681290.1:c.9560+112C= ENSP00000505288.1:n.9560+112C=
ENST00000265104.4:c.9605+112C= ENSP00000265104.4:n.9605+112C=
ENST00000504001.3:n.317+112C=
NM_001369.2:c.9605+112C= NP_001360.1:n.9605+112C=
XM_005248262.2:c.9560+112C= XP_005248319.1:n.9560+112C=
XM_005248262.3:c.9713+112C= XP_005248319.2:n.9713+112C=
XM_017009177.1:c.9713+112C= XP_016864666.1:n.9713+112C=
XM_017009178.1:c.8618+112C= XP_016864667.1:n.8618+112C=
XM_017009179.2:c.8618+112C= XP_016864668.1:n.8618+112C=
XM_017009180.1:c.9713+112C= XP_016864669.1:n.9713+112C=
XM_017009181.1:c.9713+112C= XP_016864670.1:n.9713+112C=
XM_017009182.1:c.9713+112C= XP_016864671.1:n.9713+112C=
XM_017009183.1:c.*108C= XP_016864672.1:n.*108C=
XM_017009185.1:c.4802+112C= XP_016864674.1:n.4802+112C=
XM_017009186.1:c.4355+112C= XP_016864675.1:n.4355+112C=
XM_017009188.1:c.3692+112C= XP_016864677.1:n.3692+112C=
XM_024454388.1:c.8618+112C= XP_024310156.1:n.8618+112C=
XM_024454389.1:c.8207+112C= XP_024310157.1:n.8207+112C=
NM_001369.3:c.9605+112C= MANE Select NP_001360.1:n.9605+112C=