Canonical Allele Identifier: CA359232216
Gene: DNAH5 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13870946G>T , CM000667.2:g.13870946G>T GRCh38
NC_000005.9:g.13871055G>T , CM000667.1:g.13871055G>T GRCh37
NC_000005.8:g.13924055G>T NCBI36
NG_013081.1:g.78535C>A
NG_013081.2:g.78535C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.3655C>A MANE Select ENSP00000265104.4:p.Arg1219Ser
ENST00000681290.1:c.3610C>A ENSP00000505288.1:p.Arg1204Ser
ENST00000265104.4:c.3655C>A ENSP00000265104.4:p.Arg1219Ser
NM_001369.2:c.3655C>A NP_001360.1:p.Arg1219Ser
XM_005248262.2:c.3610C>A XP_005248319.1:p.Arg1204Ser
XM_011513990.1:c.3655C>A XP_011512292.1:p.Arg1219Ser
XR_925598.1:n.3862C>A
XM_005248262.3:c.3763C>A XP_005248319.2:p.Arg1255Ser
XM_017009177.1:c.3763C>A XP_016864666.1:p.Arg1255Ser
XM_017009178.1:c.2668C>A XP_016864667.1:p.Arg890Ser
XM_017009179.2:c.2668C>A XP_016864668.1:p.Arg890Ser
XM_017009180.1:c.3763C>A XP_016864669.1:p.Arg1255Ser
XM_017009181.1:c.3763C>A XP_016864670.1:p.Arg1255Ser
XM_017009182.1:c.3763C>A XP_016864671.1:p.Arg1255Ser
XM_017009183.1:c.3763C>A XP_016864672.1:p.Arg1255Ser
XM_017009184.1:c.3763C>A XP_016864673.1:p.Arg1255Ser
XM_017009187.1:c.3763C>A XP_016864676.1:p.Arg1255Ser
XM_024454388.1:c.2668C>A XP_024310156.1:p.Arg890Ser
XM_024454389.1:c.2257C>A XP_024310157.1:p.Arg753Ser
XR_001742034.1:n.3780C>A
XR_001742035.1:n.3780C>A
NM_001369.3:c.3655C>A MANE Select NP_001360.1:p.Arg1219Ser