Canonical Allele Identifier: CA1528476513

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870951A= , CM000667.2:g.13870951A=	GRCh38
NC_000005.9:g.13871060A= , CM000667.1:g.13871060A=	GRCh37
NC_000005.8:g.13924060A=	NCBI36
NG_013081.1:g.78530T=
NG_013081.2:g.78530T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3650T= MANE Select	ENSP00000265104.4:p.Ile1217=
ENST00000681290.1:c.3605T=	ENSP00000505288.1:p.Ile1202=
ENST00000265104.4:c.3650T=	ENSP00000265104.4:p.Ile1217=
NM_001369.2:c.3650T=	NP_001360.1:p.Ile1217=
XM_005248262.2:c.3605T=	XP_005248319.1:p.Ile1202=
XM_011513990.1:c.3650T=	XP_011512292.1:p.Ile1217=
XR_925598.1:n.3857T=
XM_005248262.3:c.3758T=	XP_005248319.2:p.Ile1253=
XM_017009177.1:c.3758T=	XP_016864666.1:p.Ile1253=
XM_017009178.1:c.2663T=	XP_016864667.1:p.Ile888=
XM_017009179.2:c.2663T=	XP_016864668.1:p.Ile888=
XM_017009180.1:c.3758T=	XP_016864669.1:p.Ile1253=
XM_017009181.1:c.3758T=	XP_016864670.1:p.Ile1253=
XM_017009182.1:c.3758T=	XP_016864671.1:p.Ile1253=
XM_017009183.1:c.3758T=	XP_016864672.1:p.Ile1253=
XM_017009184.1:c.3758T=	XP_016864673.1:p.Ile1253=
XM_017009187.1:c.3758T=	XP_016864676.1:p.Ile1253=
XM_024454388.1:c.2663T=	XP_024310156.1:p.Ile888=
XM_024454389.1:c.2252T=	XP_024310157.1:p.Ile751=
XR_001742034.1:n.3775T=
XR_001742035.1:n.3775T=
NM_001369.3:c.3650T= MANE Select	NP_001360.1:p.Ile1217=