Canonical Allele Identifier: CA1528441638

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13793559A= , CM000667.2:g.13793559A=	GRCh38
NC_000005.9:g.13793668A= , CM000667.1:g.13793668A=	GRCh37
NC_000005.8:g.13846668A=	NCBI36
NG_013081.1:g.155922T=
NG_013081.2:g.155922T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8180T= MANE Select	ENSP00000265104.4:p.Phe2727=
ENST00000681290.1:c.8135T=	ENSP00000505288.1:p.Phe2712=
ENST00000265104.4:c.8180T=	ENSP00000265104.4:p.Phe2727=
NM_001369.2:c.8180T=	NP_001360.1:p.Phe2727=
XM_005248262.2:c.8135T=	XP_005248319.1:p.Phe2712=
XM_011513990.1:c.8180T=	XP_011512292.1:p.Phe2727=
XR_925598.1:n.8387T=
XM_005248262.3:c.8288T=	XP_005248319.2:p.Phe2763=
XM_017009177.1:c.8288T=	XP_016864666.1:p.Phe2763=
XM_017009178.1:c.7193T=	XP_016864667.1:p.Phe2398=
XM_017009179.2:c.7193T=	XP_016864668.1:p.Phe2398=
XM_017009180.1:c.8288T=	XP_016864669.1:p.Phe2763=
XM_017009181.1:c.8288T=	XP_016864670.1:p.Phe2763=
XM_017009182.1:c.8288T=	XP_016864671.1:p.Phe2763=
XM_017009183.1:c.8288T=	XP_016864672.1:p.Phe2763=
XM_017009184.1:c.8288T=	XP_016864673.1:p.Phe2763=
XM_017009185.1:c.3377T=	XP_016864674.1:p.Phe1126=
XM_017009186.1:c.2930T=	XP_016864675.1:p.Phe977=
XM_017009188.1:c.2267T=	XP_016864677.1:p.Phe756=
XM_024454388.1:c.7193T=	XP_024310156.1:p.Phe2398=
XM_024454389.1:c.6782T=	XP_024310157.1:p.Phe2261=
XR_001742034.1:n.8305T=
XR_001742035.1:n.8305T=
NM_001369.3:c.8180T= MANE Select	NP_001360.1:p.Phe2727=