Canonical Allele Identifier: CA1528423500

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13753405A= , CM000667.2:g.13753405A=	GRCh38
NC_000005.9:g.13753514A= , CM000667.1:g.13753514A=	GRCh37
NC_000005.8:g.13806514A=	NCBI36
NG_013081.1:g.196076T=
NG_013081.2:g.196076T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10700T= MANE Select	ENSP00000265104.4:p.Leu3567=
ENST00000681290.1:c.10655T=	ENSP00000505288.1:p.Leu3552=
ENST00000265104.4:c.10700T=	ENSP00000265104.4:p.Leu3567=
NM_001369.2:c.10700T=	NP_001360.1:p.Leu3567=
XM_005248262.2:c.10655T=	XP_005248319.1:p.Leu3552=
XM_005248262.3:c.10808T=	XP_005248319.2:p.Leu3603=
XM_017009177.1:c.10808T=	XP_016864666.1:p.Leu3603=
XM_017009178.1:c.9713T=	XP_016864667.1:p.Leu3238=
XM_017009179.2:c.9713T=	XP_016864668.1:p.Leu3238=
XM_017009180.1:c.10808T=	XP_016864669.1:p.Leu3603=
XM_017009181.1:c.10808T=	XP_016864670.1:p.Leu3603=
XM_017009182.1:c.10808T=	XP_016864671.1:p.Leu3603=
XM_017009185.1:c.5897T=	XP_016864674.1:p.Leu1966=
XM_017009186.1:c.5450T=	XP_016864675.1:p.Leu1817=
XM_017009188.1:c.4787T=	XP_016864677.1:p.Leu1596=
XM_024454388.1:c.9713T=	XP_024310156.1:p.Leu3238=
XM_024454389.1:c.9302T=	XP_024310157.1:p.Leu3101=
NM_001369.3:c.10700T= MANE Select	NP_001360.1:p.Leu3567=