Canonical Allele Identifier: CA1528458062

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829528C= , CM000667.2:g.13829528C=	GRCh38
NC_000005.9:g.13829637C= , CM000667.1:g.13829637C=	GRCh37
NC_000005.8:g.13882637C=	NCBI36
NG_013081.1:g.119953G=
NG_013081.2:g.119953G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1357G=
ENST00000265104.5:c.6426G= MANE Select	ENSP00000265104.4:p.Glu2142=
ENST00000681290.1:c.6381G=	ENSP00000505288.1:p.Glu2127=
ENST00000265104.4:c.6426G=	ENSP00000265104.4:p.Glu2142=
NM_001369.2:c.6426G=	NP_001360.1:p.Glu2142=
XM_005248262.2:c.6381G=	XP_005248319.1:p.Glu2127=
XM_011513990.1:c.6426G=	XP_011512292.1:p.Glu2142=
XR_925598.1:n.6633G=
XM_005248262.3:c.6534G=	XP_005248319.2:p.Glu2178=
XM_017009177.1:c.6534G=	XP_016864666.1:p.Glu2178=
XM_017009178.1:c.5439G=	XP_016864667.1:p.Glu1813=
XM_017009179.2:c.5439G=	XP_016864668.1:p.Glu1813=
XM_017009180.1:c.6534G=	XP_016864669.1:p.Glu2178=
XM_017009181.1:c.6534G=	XP_016864670.1:p.Glu2178=
XM_017009182.1:c.6534G=	XP_016864671.1:p.Glu2178=
XM_017009183.1:c.6534G=	XP_016864672.1:p.Glu2178=
XM_017009184.1:c.6534G=	XP_016864673.1:p.Glu2178=
XM_017009185.1:c.1623G=	XP_016864674.1:p.Glu541=
XM_017009186.1:c.1176G=	XP_016864675.1:p.Glu392=
XM_017009187.1:c.6534G=	XP_016864676.1:p.Glu2178=
XM_017009188.1:c.513G=	XP_016864677.1:p.Glu171=
XM_024454388.1:c.5439G=	XP_024310156.1:p.Glu1813=
XM_024454389.1:c.5028G=	XP_024310157.1:p.Glu1676=
XR_001742034.1:n.6551G=
XR_001742035.1:n.6551G=
NM_001369.3:c.6426G= MANE Select	NP_001360.1:p.Glu2142=