Canonical Allele Identifier: CA1528395873

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692085G= , CM000667.2:g.13692085G=	GRCh38
NC_000005.9:g.13692194G= , CM000667.1:g.13692194G=	GRCh37
NC_000005.8:g.13745194G=	NCBI36
NG_013081.1:g.257396C=
NG_013081.2:g.257396C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1107C=
ENST00000265104.5:c.13774C= MANE Select	ENSP00000265104.4:p.Arg4592=
ENST00000681290.1:c.13729C=	ENSP00000505288.1:p.Arg4577=
ENST00000265104.4:c.13774C=	ENSP00000265104.4:p.Arg4592=
NM_001369.2:c.13774C=	NP_001360.1:p.Arg4592=
XM_005248262.2:c.13729C=	XP_005248319.1:p.Arg4577=
XM_005248262.3:c.13882C=	XP_005248319.2:p.Arg4628=
XM_017009177.1:c.13462C=	XP_016864666.1:p.Arg4488=
XM_017009178.1:c.12787C=	XP_016864667.1:p.Arg4263=
XM_017009179.2:c.12787C=	XP_016864668.1:p.Arg4263=
XM_017009185.1:c.8971C=	XP_016864674.1:p.Arg2991=
XM_017009186.1:c.8524C=	XP_016864675.1:p.Arg2842=
XM_017009188.1:c.7861C=	XP_016864677.1:p.Arg2621=
XM_024454388.1:c.12787C=	XP_024310156.1:p.Arg4263=
XM_024454389.1:c.12376C=	XP_024310157.1:p.Arg4126=
NM_001369.3:c.13774C= MANE Select	NP_001360.1:p.Arg4592=