Canonical Allele Identifier: CA1528441624
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13793522C= , CM000667.2:g.13793522C= GRCh38
NC_000005.9:g.13793631C= , CM000667.1:g.13793631C= GRCh37
NC_000005.8:g.13846631C= NCBI36
NG_013081.1:g.155959G=
NG_013081.2:g.155959G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.8217G= MANE Select ENSP00000265104.4:p.Lys2739=
ENST00000681290.1:c.8172G= ENSP00000505288.1:p.Lys2724=
ENST00000265104.4:c.8217G= ENSP00000265104.4:p.Lys2739=
NM_001369.2:c.8217G= NP_001360.1:p.Lys2739=
XM_005248262.2:c.8172G= XP_005248319.1:p.Lys2724=
XM_011513990.1:c.8217G= XP_011512292.1:p.Lys2739=
XR_925598.1:n.8424G=
XM_005248262.3:c.8325G= XP_005248319.2:p.Lys2775=
XM_017009177.1:c.8325G= XP_016864666.1:p.Lys2775=
XM_017009178.1:c.7230G= XP_016864667.1:p.Lys2410=
XM_017009179.2:c.7230G= XP_016864668.1:p.Lys2410=
XM_017009180.1:c.8325G= XP_016864669.1:p.Lys2775=
XM_017009181.1:c.8325G= XP_016864670.1:p.Lys2775=
XM_017009182.1:c.8325G= XP_016864671.1:p.Lys2775=
XM_017009183.1:c.8325G= XP_016864672.1:p.Lys2775=
XM_017009184.1:c.8325G= XP_016864673.1:p.Lys2775=
XM_017009185.1:c.3414G= XP_016864674.1:p.Lys1138=
XM_017009186.1:c.2967G= XP_016864675.1:p.Lys989=
XM_017009188.1:c.2304G= XP_016864677.1:p.Lys768=
XM_024454388.1:c.7230G= XP_024310156.1:p.Lys2410=
XM_024454389.1:c.6819G= XP_024310157.1:p.Lys2273=
XR_001742034.1:n.8342G=
XR_001742035.1:n.8342G=
NM_001369.3:c.8217G= MANE Select NP_001360.1:p.Lys2739=