Canonical Allele Identifier: CA1528435384

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776679T= , CM000667.2:g.13776679T=	GRCh38
NC_000005.9:g.13776788T= , CM000667.1:g.13776788T=	GRCh37
NC_000005.8:g.13829788T=	NCBI36
NG_013081.1:g.172802A=
NG_013081.2:g.172802A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9133A= MANE Select	ENSP00000265104.4:p.Ile3045=
ENST00000681290.1:c.9088A=	ENSP00000505288.1:p.Ile3030=
ENST00000265104.4:c.9133A=	ENSP00000265104.4:p.Ile3045=
NM_001369.2:c.9133A=	NP_001360.1:p.Ile3045=
XM_005248262.2:c.9088A=	XP_005248319.1:p.Ile3030=
XM_011513990.1:c.*20A=	XP_011512292.1:n.*20A=
XR_925598.1:n.9204A=
XM_005248262.3:c.9241A=	XP_005248319.2:p.Ile3081=
XM_017009177.1:c.9241A=	XP_016864666.1:p.Ile3081=
XM_017009178.1:c.8146A=	XP_016864667.1:p.Ile2716=
XM_017009179.2:c.8146A=	XP_016864668.1:p.Ile2716=
XM_017009180.1:c.9241A=	XP_016864669.1:p.Ile3081=
XM_017009181.1:c.9241A=	XP_016864670.1:p.Ile3081=
XM_017009182.1:c.9241A=	XP_016864671.1:p.Ile3081=
XM_017009183.1:c.9241A=	XP_016864672.1:p.Ile3081=
XM_017009184.1:c.*20A=	XP_016864673.1:n.*20A=
XM_017009185.1:c.4330A=	XP_016864674.1:p.Ile1444=
XM_017009186.1:c.3883A=	XP_016864675.1:p.Ile1295=
XM_017009188.1:c.3220A=	XP_016864677.1:p.Ile1074=
XM_024454388.1:c.8146A=	XP_024310156.1:p.Ile2716=
XM_024454389.1:c.7735A=	XP_024310157.1:p.Ile2579=
XR_001742034.1:n.9127A=
XR_001742035.1:n.9122A=
NM_001369.3:c.9133A= MANE Select	NP_001360.1:p.Ile3045=