Canonical Allele Identifier: CA1528435057
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13776466G= , CM000667.2:g.13776466G= GRCh38
NC_000005.9:g.13776575G= , CM000667.1:g.13776575G= GRCh37
NC_000005.8:g.13829575G= NCBI36
NG_013081.1:g.173015C=
NG_013081.2:g.173015C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.9346C= MANE Select ENSP00000265104.4:p.Arg3116=
ENST00000681290.1:c.9301C= ENSP00000505288.1:p.Arg3101=
ENST00000265104.4:c.9346C= ENSP00000265104.4:p.Arg3116=
NM_001369.2:c.9346C= NP_001360.1:p.Arg3116=
XM_005248262.2:c.9301C= XP_005248319.1:p.Arg3101=
XM_005248262.3:c.9454C= XP_005248319.2:p.Arg3152=
XM_017009177.1:c.9454C= XP_016864666.1:p.Arg3152=
XM_017009178.1:c.8359C= XP_016864667.1:p.Arg2787=
XM_017009179.2:c.8359C= XP_016864668.1:p.Arg2787=
XM_017009180.1:c.9454C= XP_016864669.1:p.Arg3152=
XM_017009181.1:c.9454C= XP_016864670.1:p.Arg3152=
XM_017009182.1:c.9454C= XP_016864671.1:p.Arg3152=
XM_017009183.1:c.9454C= XP_016864672.1:p.Arg3152=
XM_017009185.1:c.4543C= XP_016864674.1:p.Arg1515=
XM_017009186.1:c.4096C= XP_016864675.1:p.Arg1366=
XM_017009188.1:c.3433C= XP_016864677.1:p.Arg1145=
XM_024454388.1:c.8359C= XP_024310156.1:p.Arg2787=
XM_024454389.1:c.7948C= XP_024310157.1:p.Arg2650=
NM_001369.3:c.9346C= MANE Select NP_001360.1:p.Arg3116=