Canonical Allele Identifier: CA1528458102

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829608T= , CM000667.2:g.13829608T=	GRCh38
NC_000005.9:g.13829717T= , CM000667.1:g.13829717T=	GRCh37
NC_000005.8:g.13882717T=	NCBI36
NG_013081.1:g.119873A=
NG_013081.2:g.119873A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1277A=
ENST00000265104.5:c.6346A= MANE Select	ENSP00000265104.4:p.Arg2116=
ENST00000681290.1:c.6301A=	ENSP00000505288.1:p.Arg2101=
ENST00000265104.4:c.6346A=	ENSP00000265104.4:p.Arg2116=
NM_001369.2:c.6346A=	NP_001360.1:p.Arg2116=
XM_005248262.2:c.6301A=	XP_005248319.1:p.Arg2101=
XM_011513990.1:c.6346A=	XP_011512292.1:p.Arg2116=
XR_925598.1:n.6553A=
XM_005248262.3:c.6454A=	XP_005248319.2:p.Arg2152=
XM_017009177.1:c.6454A=	XP_016864666.1:p.Arg2152=
XM_017009178.1:c.5359A=	XP_016864667.1:p.Arg1787=
XM_017009179.2:c.5359A=	XP_016864668.1:p.Arg1787=
XM_017009180.1:c.6454A=	XP_016864669.1:p.Arg2152=
XM_017009181.1:c.6454A=	XP_016864670.1:p.Arg2152=
XM_017009182.1:c.6454A=	XP_016864671.1:p.Arg2152=
XM_017009183.1:c.6454A=	XP_016864672.1:p.Arg2152=
XM_017009184.1:c.6454A=	XP_016864673.1:p.Arg2152=
XM_017009185.1:c.1543A=	XP_016864674.1:p.Arg515=
XM_017009186.1:c.1096A=	XP_016864675.1:p.Arg366=
XM_017009187.1:c.6454A=	XP_016864676.1:p.Arg2152=
XM_017009188.1:c.433A=	XP_016864677.1:p.Arg145=
XM_024454388.1:c.5359A=	XP_024310156.1:p.Arg1787=
XM_024454389.1:c.4948A=	XP_024310157.1:p.Arg1650=
XR_001742034.1:n.6471A=
XR_001742035.1:n.6471A=
NM_001369.3:c.6346A= MANE Select	NP_001360.1:p.Arg2116=