Canonical Allele Identifier: CA1528440978

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13792125G= , CM000667.2:g.13792125G=	GRCh38
NC_000005.9:g.13792234G= , CM000667.1:g.13792234G=	GRCh37
NC_000005.8:g.13845234G=	NCBI36
NG_013081.1:g.157356C=
NG_013081.2:g.157356C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.8317C= MANE Select	ENSP00000265104.4:p.Leu2773=
ENST00000681290.1:c.8272C=	ENSP00000505288.1:p.Leu2758=
ENST00000265104.4:c.8317C=	ENSP00000265104.4:p.Leu2773=
NM_001369.2:c.8317C=	NP_001360.1:p.Leu2773=
XM_005248262.2:c.8272C=	XP_005248319.1:p.Leu2758=
XM_011513990.1:c.8317C=	XP_011512292.1:p.Leu2773=
XR_925598.1:n.8524C=
XM_005248262.3:c.8425C=	XP_005248319.2:p.Leu2809=
XM_017009177.1:c.8425C=	XP_016864666.1:p.Leu2809=
XM_017009178.1:c.7330C=	XP_016864667.1:p.Leu2444=
XM_017009179.2:c.7330C=	XP_016864668.1:p.Leu2444=
XM_017009180.1:c.8425C=	XP_016864669.1:p.Leu2809=
XM_017009181.1:c.8425C=	XP_016864670.1:p.Leu2809=
XM_017009182.1:c.8425C=	XP_016864671.1:p.Leu2809=
XM_017009183.1:c.8425C=	XP_016864672.1:p.Leu2809=
XM_017009184.1:c.8425C=	XP_016864673.1:p.Leu2809=
XM_017009185.1:c.3514C=	XP_016864674.1:p.Leu1172=
XM_017009186.1:c.3067C=	XP_016864675.1:p.Leu1023=
XM_017009188.1:c.2404C=	XP_016864677.1:p.Leu802=
XM_024454388.1:c.7330C=	XP_024310156.1:p.Leu2444=
XM_024454389.1:c.6919C=	XP_024310157.1:p.Leu2307=
XR_001742034.1:n.8442C=
XR_001742035.1:n.8442C=
NM_001369.3:c.8317C= MANE Select	NP_001360.1:p.Leu2773=