Canonical Allele Identifier: CA1528465073

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844984C= , CM000667.2:g.13844984C=	GRCh38
NC_000005.9:g.13845093C= , CM000667.1:g.13845093C=	GRCh37
NC_000005.8:g.13898093C=	NCBI36
NG_013081.1:g.104497G=
NG_013081.2:g.104497G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5124G= MANE Select	ENSP00000265104.4:p.Glu1708=
ENST00000681290.1:c.5079G=	ENSP00000505288.1:p.Glu1693=
ENST00000265104.4:c.5124G=	ENSP00000265104.4:p.Glu1708=
NM_001369.2:c.5124G=	NP_001360.1:p.Glu1708=
XM_005248262.2:c.5079G=	XP_005248319.1:p.Glu1693=
XM_011513990.1:c.5124G=	XP_011512292.1:p.Glu1708=
XR_925598.1:n.5331G=
XM_005248262.3:c.5232G=	XP_005248319.2:p.Glu1744=
XM_017009177.1:c.5232G=	XP_016864666.1:p.Glu1744=
XM_017009178.1:c.4137G=	XP_016864667.1:p.Glu1379=
XM_017009179.2:c.4137G=	XP_016864668.1:p.Glu1379=
XM_017009180.1:c.5232G=	XP_016864669.1:p.Glu1744=
XM_017009181.1:c.5232G=	XP_016864670.1:p.Glu1744=
XM_017009182.1:c.5232G=	XP_016864671.1:p.Glu1744=
XM_017009183.1:c.5232G=	XP_016864672.1:p.Glu1744=
XM_017009184.1:c.5232G=	XP_016864673.1:p.Glu1744=
XM_017009185.1:c.321G=	XP_016864674.1:p.Glu107=
XM_017009186.1:c.22-3080G=	XP_016864675.1:n.22-3080G=
XM_017009187.1:c.5232G=	XP_016864676.1:p.Glu1744=
XM_024454388.1:c.4137G=	XP_024310156.1:p.Glu1379=
XM_024454389.1:c.3726G=	XP_024310157.1:p.Glu1242=
XR_001742034.1:n.5249G=
XR_001742035.1:n.5249G=
NM_001369.3:c.5124G= MANE Select	NP_001360.1:p.Glu1708=