Canonical Allele Identifier: CA1528403755

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708192G= , CM000667.2:g.13708192G=	GRCh38
NC_000005.9:g.13708301G= , CM000667.1:g.13708301G=	GRCh37
NC_000005.8:g.13761301G=	NCBI36
NG_013081.1:g.241289C=
NG_013081.2:g.241289C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.602C=
ENST00000265104.5:c.13269C= MANE Select	ENSP00000265104.4:p.Ile4423=
ENST00000681290.1:c.13224C=	ENSP00000505288.1:p.Ile4408=
ENST00000265104.4:c.13269C=	ENSP00000265104.4:p.Ile4423=
NM_001369.2:c.13269C=	NP_001360.1:p.Ile4423=
XM_005248262.2:c.13224C=	XP_005248319.1:p.Ile4408=
XM_005248262.3:c.13377C=	XP_005248319.2:p.Ile4459=
XM_017009177.1:c.12957C=	XP_016864666.1:p.Ile4319=
XM_017009178.1:c.12282C=	XP_016864667.1:p.Ile4094=
XM_017009179.2:c.12282C=	XP_016864668.1:p.Ile4094=
XM_017009185.1:c.8466C=	XP_016864674.1:p.Ile2822=
XM_017009186.1:c.8019C=	XP_016864675.1:p.Ile2673=
XM_017009188.1:c.7356C=	XP_016864677.1:p.Ile2452=
XM_024454388.1:c.12282C=	XP_024310156.1:p.Ile4094=
XM_024454389.1:c.11871C=	XP_024310157.1:p.Ile3957=
NM_001369.3:c.13269C= MANE Select	NP_001360.1:p.Ile4423=