Canonical Allele Identifier: CA1528430381

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769087G= , CM000667.2:g.13769087G=	GRCh38
NC_000005.9:g.13769196G= , CM000667.1:g.13769196G=	GRCh37
NC_000005.8:g.13822196G=	NCBI36
NG_013081.1:g.180394C=
NG_013081.2:g.180394C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9770C= MANE Select	ENSP00000265104.4:p.Ala3257=
ENST00000681290.1:c.9725C=	ENSP00000505288.1:p.Ala3242=
ENST00000265104.4:c.9770C=	ENSP00000265104.4:p.Ala3257=
ENST00000504001.3:n.482C=
NM_001369.2:c.9770C=	NP_001360.1:p.Ala3257=
XM_005248262.2:c.9725C=	XP_005248319.1:p.Ala3242=
XM_005248262.3:c.9878C=	XP_005248319.2:p.Ala3293=
XM_017009177.1:c.9878C=	XP_016864666.1:p.Ala3293=
XM_017009178.1:c.8783C=	XP_016864667.1:p.Ala2928=
XM_017009179.2:c.8783C=	XP_016864668.1:p.Ala2928=
XM_017009180.1:c.9878C=	XP_016864669.1:p.Ala3293=
XM_017009181.1:c.9878C=	XP_016864670.1:p.Ala3293=
XM_017009182.1:c.9878C=	XP_016864671.1:p.Ala3293=
XM_017009185.1:c.4967C=	XP_016864674.1:p.Ala1656=
XM_017009186.1:c.4520C=	XP_016864675.1:p.Ala1507=
XM_017009188.1:c.3857C=	XP_016864677.1:p.Ala1286=
XM_024454388.1:c.8783C=	XP_024310156.1:p.Ala2928=
XM_024454389.1:c.8372C=	XP_024310157.1:p.Ala2791=
NM_001369.3:c.9770C= MANE Select	NP_001360.1:p.Ala3257=