Canonical Allele Identifier: CA1528395894

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692129C= , CM000667.2:g.13692129C=	GRCh38
NC_000005.9:g.13692238C= , CM000667.1:g.13692238C=	GRCh37
NC_000005.8:g.13745238C=	NCBI36
NG_013081.1:g.257352G=
NG_013081.2:g.257352G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1063G=
ENST00000265104.5:c.13730G= MANE Select	ENSP00000265104.4:p.Arg4577=
ENST00000681290.1:c.13685G=	ENSP00000505288.1:p.Arg4562=
ENST00000265104.4:c.13730G=	ENSP00000265104.4:p.Arg4577=
NM_001369.2:c.13730G=	NP_001360.1:p.Arg4577=
XM_005248262.2:c.13685G=	XP_005248319.1:p.Arg4562=
XM_005248262.3:c.13838G=	XP_005248319.2:p.Arg4613=
XM_017009177.1:c.13418G=	XP_016864666.1:p.Arg4473=
XM_017009178.1:c.12743G=	XP_016864667.1:p.Arg4248=
XM_017009179.2:c.12743G=	XP_016864668.1:p.Arg4248=
XM_017009185.1:c.8927G=	XP_016864674.1:p.Arg2976=
XM_017009186.1:c.8480G=	XP_016864675.1:p.Arg2827=
XM_017009188.1:c.7817G=	XP_016864677.1:p.Arg2606=
XM_024454388.1:c.12743G=	XP_024310156.1:p.Arg4248=
XM_024454389.1:c.12332G=	XP_024310157.1:p.Arg4111=
NM_001369.3:c.13730G= MANE Select	NP_001360.1:p.Arg4577=