Canonical Allele Identifier: CA3204570
Gene: DNAH5 HGNC NCBI

Linked Data

ClinVar Variation Id: 525547
dbSNP Id: rs777353326

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13891072G>A , CM000667.2:g.13891072G>A GRCh38
NC_000005.9:g.13891181G>A , CM000667.1:g.13891181G>A GRCh37
NC_000005.8:g.13944181G>A NCBI36
NG_013081.1:g.58409C>T
NG_013081.2:g.58409C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000265104.5:c.2481C>T MANE Select ENSP00000265104.4:p.Arg827=
ENST00000681290.1:c.2436C>T ENSP00000505288.1:p.Arg812=
ENST00000265104.4:c.2481C>T ENSP00000265104.4:p.Arg827=
NM_001369.2:c.2481C>T NP_001360.1:p.Arg827=
XM_005248262.2:c.2436C>T XP_005248319.1:p.Arg812=
XM_011513990.1:c.2481C>T XP_011512292.1:p.Arg827=
XR_925598.1:n.2688C>T
XM_005248262.3:c.2589C>T XP_005248319.2:p.Arg863=
XM_017009177.1:c.2589C>T XP_016864666.1:p.Arg863=
XM_017009178.1:c.1494C>T XP_016864667.1:p.Arg498=
XM_017009179.2:c.1494C>T XP_016864668.1:p.Arg498=
XM_017009180.1:c.2589C>T XP_016864669.1:p.Arg863=
XM_017009181.1:c.2589C>T XP_016864670.1:p.Arg863=
XM_017009182.1:c.2589C>T XP_016864671.1:p.Arg863=
XM_017009183.1:c.2589C>T XP_016864672.1:p.Arg863=
XM_017009184.1:c.2589C>T XP_016864673.1:p.Arg863=
XM_017009187.1:c.2589C>T XP_016864676.1:p.Arg863=
XM_024454388.1:c.1494C>T XP_024310156.1:p.Arg498=
XM_024454389.1:c.1083C>T XP_024310157.1:p.Arg361=
XR_001742034.1:n.2606C>T
XR_001742035.1:n.2606C>T
NM_001369.3:c.2481C>T MANE Select NP_001360.1:p.Arg827=