Canonical Allele Identifier: CA1528465022

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13844862A= , CM000667.2:g.13844862A=	GRCh38
NC_000005.9:g.13844971A= , CM000667.1:g.13844971A=	GRCh37
NC_000005.8:g.13897971A=	NCBI36
NG_013081.1:g.104619T=
NG_013081.2:g.104619T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.5246T= MANE Select	ENSP00000265104.4:p.Ile1749=
ENST00000681290.1:c.5201T=	ENSP00000505288.1:p.Ile1734=
ENST00000265104.4:c.5246T=	ENSP00000265104.4:p.Ile1749=
NM_001369.2:c.5246T=	NP_001360.1:p.Ile1749=
XM_005248262.2:c.5201T=	XP_005248319.1:p.Ile1734=
XM_011513990.1:c.5246T=	XP_011512292.1:p.Ile1749=
XR_925598.1:n.5453T=
XM_005248262.3:c.5354T=	XP_005248319.2:p.Ile1785=
XM_017009177.1:c.5354T=	XP_016864666.1:p.Ile1785=
XM_017009178.1:c.4259T=	XP_016864667.1:p.Ile1420=
XM_017009179.2:c.4259T=	XP_016864668.1:p.Ile1420=
XM_017009180.1:c.5354T=	XP_016864669.1:p.Ile1785=
XM_017009181.1:c.5354T=	XP_016864670.1:p.Ile1785=
XM_017009182.1:c.5354T=	XP_016864671.1:p.Ile1785=
XM_017009183.1:c.5354T=	XP_016864672.1:p.Ile1785=
XM_017009184.1:c.5354T=	XP_016864673.1:p.Ile1785=
XM_017009185.1:c.443T=	XP_016864674.1:p.Ile148=
XM_017009186.1:c.22-2958T=	XP_016864675.1:n.22-2958T=
XM_017009187.1:c.5354T=	XP_016864676.1:p.Ile1785=
XM_024454388.1:c.4259T=	XP_024310156.1:p.Ile1420=
XM_024454389.1:c.3848T=	XP_024310157.1:p.Ile1283=
XR_001742034.1:n.5371T=
XR_001742035.1:n.5371T=
NM_001369.3:c.5246T= MANE Select	NP_001360.1:p.Ile1749=