Canonical Allele Identifier: CA1528458374

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13841772G= , CM000667.2:g.13841772G=	GRCh38
NC_000005.9:g.13841881G= , CM000667.1:g.13841881G=	GRCh37
NC_000005.8:g.13894881G=	NCBI36
NG_013081.1:g.107709C=
NG_013081.2:g.107709C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.5404C= MANE Select	ENSP00000265104.4:p.Leu1802=
ENST00000681290.1:c.5359C=	ENSP00000505288.1:p.Leu1787=
ENST00000265104.4:c.5404C=	ENSP00000265104.4:p.Leu1802=
NM_001369.2:c.5404C=	NP_001360.1:p.Leu1802=
XM_005248262.2:c.5359C=	XP_005248319.1:p.Leu1787=
XM_011513990.1:c.5404C=	XP_011512292.1:p.Leu1802=
XR_925598.1:n.5611C=
XM_005248262.3:c.5512C=	XP_005248319.2:p.Leu1838=
XM_017009177.1:c.5512C=	XP_016864666.1:p.Leu1838=
XM_017009178.1:c.4417C=	XP_016864667.1:p.Leu1473=
XM_017009179.2:c.4417C=	XP_016864668.1:p.Leu1473=
XM_017009180.1:c.5512C=	XP_016864669.1:p.Leu1838=
XM_017009181.1:c.5512C=	XP_016864670.1:p.Leu1838=
XM_017009182.1:c.5512C=	XP_016864671.1:p.Leu1838=
XM_017009183.1:c.5512C=	XP_016864672.1:p.Leu1838=
XM_017009184.1:c.5512C=	XP_016864673.1:p.Leu1838=
XM_017009185.1:c.601C=	XP_016864674.1:p.Leu201=
XM_017009186.1:c.154C=	XP_016864675.1:p.Leu52=
XM_017009187.1:c.5512C=	XP_016864676.1:p.Leu1838=
XM_024454388.1:c.4417C=	XP_024310156.1:p.Leu1473=
XM_024454389.1:c.4006C=	XP_024310157.1:p.Leu1336=
XR_001742034.1:n.5529C=
XR_001742035.1:n.5529C=
NM_001369.3:c.5404C= MANE Select	NP_001360.1:p.Leu1802=