Canonical Allele Identifier: CA1528498354

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13919226C= , CM000667.2:g.13919226C=	GRCh38
NC_000005.9:g.13919335C= , CM000667.1:g.13919335C=	GRCh37
NC_000005.8:g.13972335C=	NCBI36
NG_013081.1:g.30255G=
NG_013081.2:g.30255G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.981G=
ENST00000682376.1:n.969G=
ENST00000682586.1:n.1018G=
ENST00000683011.1:n.864G=
ENST00000683967.1:n.1024G=
ENST00000684013.1:n.1024G=
ENST00000684099.1:n.1020G=
ENST00000265104.5:c.925G= MANE Select	ENSP00000265104.4:p.Val309=
ENST00000680213.1:c.685G=	ENSP00000506622.1:p.Val229=
ENST00000681290.1:c.880G=	ENSP00000505288.1:p.Val294=
ENST00000265104.4:c.925G=	ENSP00000265104.4:p.Val309=
ENST00000508040.1:n.1333G=
NM_001369.2:c.925G=	NP_001360.1:p.Val309=
XM_005248262.2:c.880G=	XP_005248319.1:p.Val294=
XM_011513990.1:c.925G=	XP_011512292.1:p.Val309=
XR_925598.1:n.1132G=
XM_005248262.3:c.1033G=	XP_005248319.2:p.Val345=
XM_017009177.1:c.1033G=	XP_016864666.1:p.Val345=
XM_017009178.1:c.-63G=	XP_016864667.1:n.-63G=
XM_017009180.1:c.1033G=	XP_016864669.1:p.Val345=
XM_017009181.1:c.1033G=	XP_016864670.1:p.Val345=
XM_017009182.1:c.1033G=	XP_016864671.1:p.Val345=
XM_017009183.1:c.1033G=	XP_016864672.1:p.Val345=
XM_017009184.1:c.1033G=	XP_016864673.1:p.Val345=
XM_017009187.1:c.1033G=	XP_016864676.1:p.Val345=
XM_024454388.1:c.-1982G=	XP_024310156.1:n.-1982G=
XM_024454389.1:c.-1035G=	XP_024310157.1:n.-1035G=
XR_001742034.1:n.1050G=
XR_001742035.1:n.1050G=
NM_001369.3:c.925G= MANE Select	NP_001360.1:p.Val309=