Canonical Allele Identifier: CA1528476557

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13870986G= , CM000667.2:g.13870986G=	GRCh38
NC_000005.9:g.13871095G= , CM000667.1:g.13871095G=	GRCh37
NC_000005.8:g.13924095G=	NCBI36
NG_013081.1:g.78495C=
NG_013081.2:g.78495C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.3615C= MANE Select	ENSP00000265104.4:p.Ala1205=
ENST00000681290.1:c.3570C=	ENSP00000505288.1:p.Ala1190=
ENST00000265104.4:c.3615C=	ENSP00000265104.4:p.Ala1205=
NM_001369.2:c.3615C=	NP_001360.1:p.Ala1205=
XM_005248262.2:c.3570C=	XP_005248319.1:p.Ala1190=
XM_011513990.1:c.3615C=	XP_011512292.1:p.Ala1205=
XR_925598.1:n.3822C=
XM_005248262.3:c.3723C=	XP_005248319.2:p.Ala1241=
XM_017009177.1:c.3723C=	XP_016864666.1:p.Ala1241=
XM_017009178.1:c.2628C=	XP_016864667.1:p.Ala876=
XM_017009179.2:c.2628C=	XP_016864668.1:p.Ala876=
XM_017009180.1:c.3723C=	XP_016864669.1:p.Ala1241=
XM_017009181.1:c.3723C=	XP_016864670.1:p.Ala1241=
XM_017009182.1:c.3723C=	XP_016864671.1:p.Ala1241=
XM_017009183.1:c.3723C=	XP_016864672.1:p.Ala1241=
XM_017009184.1:c.3723C=	XP_016864673.1:p.Ala1241=
XM_017009187.1:c.3723C=	XP_016864676.1:p.Ala1241=
XM_024454388.1:c.2628C=	XP_024310156.1:p.Ala876=
XM_024454389.1:c.2217C=	XP_024310157.1:p.Ala739=
XR_001742034.1:n.3740C=
XR_001742035.1:n.3740C=
NM_001369.3:c.3615C= MANE Select	NP_001360.1:p.Ala1205=