Canonical Allele Identifier: CA1528430380
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13769085C= , CM000667.2:g.13769085C= GRCh38
NC_000005.9:g.13769194C= , CM000667.1:g.13769194C= GRCh37
NC_000005.8:g.13822194C= NCBI36
NG_013081.1:g.180396G=
NG_013081.2:g.180396G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9772G= MANE Select ENSP00000265104.4:p.Glu3258=
ENST00000681290.1:c.9727G= ENSP00000505288.1:p.Glu3243=
ENST00000265104.4:c.9772G= ENSP00000265104.4:p.Glu3258=
ENST00000504001.3:n.484G=
NM_001369.2:c.9772G= NP_001360.1:p.Glu3258=
XM_005248262.2:c.9727G= XP_005248319.1:p.Glu3243=
XM_005248262.3:c.9880G= XP_005248319.2:p.Glu3294=
XM_017009177.1:c.9880G= XP_016864666.1:p.Glu3294=
XM_017009178.1:c.8785G= XP_016864667.1:p.Glu2929=
XM_017009179.2:c.8785G= XP_016864668.1:p.Glu2929=
XM_017009180.1:c.9880G= XP_016864669.1:p.Glu3294=
XM_017009181.1:c.9880G= XP_016864670.1:p.Glu3294=
XM_017009182.1:c.9880G= XP_016864671.1:p.Glu3294=
XM_017009185.1:c.4969G= XP_016864674.1:p.Glu1657=
XM_017009186.1:c.4522G= XP_016864675.1:p.Glu1508=
XM_017009188.1:c.3859G= XP_016864677.1:p.Glu1287=
XM_024454388.1:c.8785G= XP_024310156.1:p.Glu2929=
XM_024454389.1:c.8374G= XP_024310157.1:p.Glu2792=
NM_001369.3:c.9772G= MANE Select NP_001360.1:p.Glu3258=