Canonical Allele Identifier: CA1528430327

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13768969A= , CM000667.2:g.13768969A=	GRCh38
NC_000005.9:g.13769078A= , CM000667.1:g.13769078A=	GRCh37
NC_000005.8:g.13822078A=	NCBI36
NG_013081.1:g.180512T=
NG_013081.2:g.180512T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9888T= MANE Select	ENSP00000265104.4:p.Ala3296=
ENST00000681290.1:c.9843T=	ENSP00000505288.1:p.Ala3281=
ENST00000265104.4:c.9888T=	ENSP00000265104.4:p.Ala3296=
ENST00000504001.3:n.600T=
NM_001369.2:c.9888T=	NP_001360.1:p.Ala3296=
XM_005248262.2:c.9843T=	XP_005248319.1:p.Ala3281=
XM_005248262.3:c.9996T=	XP_005248319.2:p.Ala3332=
XM_017009177.1:c.9996T=	XP_016864666.1:p.Ala3332=
XM_017009178.1:c.8901T=	XP_016864667.1:p.Ala2967=
XM_017009179.2:c.8901T=	XP_016864668.1:p.Ala2967=
XM_017009180.1:c.9996T=	XP_016864669.1:p.Ala3332=
XM_017009181.1:c.9996T=	XP_016864670.1:p.Ala3332=
XM_017009182.1:c.9996T=	XP_016864671.1:p.Ala3332=
XM_017009185.1:c.5085T=	XP_016864674.1:p.Ala1695=
XM_017009186.1:c.4638T=	XP_016864675.1:p.Ala1546=
XM_017009188.1:c.3975T=	XP_016864677.1:p.Ala1325=
XM_024454388.1:c.8901T=	XP_024310156.1:p.Ala2967=
XM_024454389.1:c.8490T=	XP_024310157.1:p.Ala2830=
NM_001369.3:c.9888T= MANE Select	NP_001360.1:p.Ala3296=