Canonical Allele Identifier: CA1528423512
Gene: DNAH5 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.13753446C= , CM000667.2:g.13753446C= GRCh38
NC_000005.9:g.13753555C= , CM000667.1:g.13753555C= GRCh37
NC_000005.8:g.13806555C= NCBI36
NG_013081.1:g.196035G=
NG_013081.2:g.196035G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000265104.5:c.10659G= MANE Select ENSP00000265104.4:p.Arg3553=
ENST00000681290.1:c.10614G= ENSP00000505288.1:p.Arg3538=
ENST00000265104.4:c.10659G= ENSP00000265104.4:p.Arg3553=
NM_001369.2:c.10659G= NP_001360.1:p.Arg3553=
XM_005248262.2:c.10614G= XP_005248319.1:p.Arg3538=
XM_005248262.3:c.10767G= XP_005248319.2:p.Arg3589=
XM_017009177.1:c.10767G= XP_016864666.1:p.Arg3589=
XM_017009178.1:c.9672G= XP_016864667.1:p.Arg3224=
XM_017009179.2:c.9672G= XP_016864668.1:p.Arg3224=
XM_017009180.1:c.10767G= XP_016864669.1:p.Arg3589=
XM_017009181.1:c.10767G= XP_016864670.1:p.Arg3589=
XM_017009182.1:c.10767G= XP_016864671.1:p.Arg3589=
XM_017009185.1:c.5856G= XP_016864674.1:p.Arg1952=
XM_017009186.1:c.5409G= XP_016864675.1:p.Arg1803=
XM_017009188.1:c.4746G= XP_016864677.1:p.Arg1582=
XM_024454388.1:c.9672G= XP_024310156.1:p.Arg3224=
XM_024454389.1:c.9261G= XP_024310157.1:p.Arg3087=
NM_001369.3:c.10659G= MANE Select NP_001360.1:p.Arg3553=