Canonical Allele Identifier: CA1528435858
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13780861A= , CM000667.2:g.13780861A= GRCh38
NC_000005.9:g.13780970A= , CM000667.1:g.13780970A= GRCh37
NC_000005.8:g.13833970A= NCBI36
NG_013081.1:g.168620T=
NG_013081.2:g.168620T=

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.8919T= MANE Select ENSP00000265104.4:p.Ala2973=
ENST00000681290.1:c.8874T= ENSP00000505288.1:p.Ala2958=
ENST00000265104.4:c.8919T= ENSP00000265104.4:p.Ala2973=
NM_001369.2:c.8919T= NP_001360.1:p.Ala2973=
XM_005248262.2:c.8874T= XP_005248319.1:p.Ala2958=
XM_011513990.1:c.8919T= XP_011512292.1:p.Ala2973=
XR_925598.1:n.9028-3506T=
XM_005248262.3:c.9027T= XP_005248319.2:p.Ala3009=
XM_017009177.1:c.9027T= XP_016864666.1:p.Ala3009=
XM_017009178.1:c.7932T= XP_016864667.1:p.Ala2644=
XM_017009179.2:c.7932T= XP_016864668.1:p.Ala2644=
XM_017009180.1:c.9027T= XP_016864669.1:p.Ala3009=
XM_017009181.1:c.9027T= XP_016864670.1:p.Ala3009=
XM_017009182.1:c.9027T= XP_016864671.1:p.Ala3009=
XM_017009183.1:c.9027T= XP_016864672.1:p.Ala3009=
XM_017009184.1:c.9027T= XP_016864673.1:p.Ala3009=
XM_017009185.1:c.4116T= XP_016864674.1:p.Ala1372=
XM_017009186.1:c.3669T= XP_016864675.1:p.Ala1223=
XM_017009188.1:c.3006T= XP_016864677.1:p.Ala1002=
XM_024454388.1:c.7932T= XP_024310156.1:p.Ala2644=
XM_024454389.1:c.7521T= XP_024310157.1:p.Ala2507=
XR_001742034.1:n.8946-3506T=
XR_001742035.1:n.8946-3506T=
NM_001369.3:c.8919T= MANE Select NP_001360.1:p.Ala2973=