Canonical Allele Identifier: CA1528423464
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13753315G= , CM000667.2:g.13753315G= GRCh38
NC_000005.9:g.13753424G= , CM000667.1:g.13753424G= GRCh37
NC_000005.8:g.13806424G= NCBI36
NG_013081.1:g.196166C=
NG_013081.2:g.196166C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10790C= MANE Select ENSP00000265104.4:p.Ala3597=
ENST00000681290.1:c.10745C= ENSP00000505288.1:p.Ala3582=
ENST00000265104.4:c.10790C= ENSP00000265104.4:p.Ala3597=
NM_001369.2:c.10790C= NP_001360.1:p.Ala3597=
XM_005248262.2:c.10745C= XP_005248319.1:p.Ala3582=
XM_005248262.3:c.10898C= XP_005248319.2:p.Ala3633=
XM_017009177.1:c.10898C= XP_016864666.1:p.Ala3633=
XM_017009178.1:c.9803C= XP_016864667.1:p.Ala3268=
XM_017009179.2:c.9803C= XP_016864668.1:p.Ala3268=
XM_017009180.1:c.10898C= XP_016864669.1:p.Ala3633=
XM_017009181.1:c.10898C= XP_016864670.1:p.Ala3633=
XM_017009182.1:c.10898C= XP_016864671.1:p.Ala3633=
XM_017009185.1:c.5987C= XP_016864674.1:p.Ala1996=
XM_017009186.1:c.5540C= XP_016864675.1:p.Ala1847=
XM_017009188.1:c.4877C= XP_016864677.1:p.Ala1626=
XM_024454388.1:c.9803C= XP_024310156.1:p.Ala3268=
XM_024454389.1:c.9392C= XP_024310157.1:p.Ala3131=
NM_001369.3:c.10790C= MANE Select NP_001360.1:p.Ala3597=