Canonical Allele Identifier: CA1528430344

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769002T= , CM000667.2:g.13769002T=	GRCh38
NC_000005.9:g.13769111T= , CM000667.1:g.13769111T=	GRCh37
NC_000005.8:g.13822111T=	NCBI36
NG_013081.1:g.180479A=
NG_013081.2:g.180479A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9855A= MANE Select	ENSP00000265104.4:p.Glu3285=
ENST00000681290.1:c.9810A=	ENSP00000505288.1:p.Glu3270=
ENST00000265104.4:c.9855A=	ENSP00000265104.4:p.Glu3285=
ENST00000504001.3:n.567A=
NM_001369.2:c.9855A=	NP_001360.1:p.Glu3285=
XM_005248262.2:c.9810A=	XP_005248319.1:p.Glu3270=
XM_005248262.3:c.9963A=	XP_005248319.2:p.Glu3321=
XM_017009177.1:c.9963A=	XP_016864666.1:p.Glu3321=
XM_017009178.1:c.8868A=	XP_016864667.1:p.Glu2956=
XM_017009179.2:c.8868A=	XP_016864668.1:p.Glu2956=
XM_017009180.1:c.9963A=	XP_016864669.1:p.Glu3321=
XM_017009181.1:c.9963A=	XP_016864670.1:p.Glu3321=
XM_017009182.1:c.9963A=	XP_016864671.1:p.Glu3321=
XM_017009185.1:c.5052A=	XP_016864674.1:p.Glu1684=
XM_017009186.1:c.4605A=	XP_016864675.1:p.Glu1535=
XM_017009188.1:c.3942A=	XP_016864677.1:p.Glu1314=
XM_024454388.1:c.8868A=	XP_024310156.1:p.Glu2956=
XM_024454389.1:c.8457A=	XP_024310157.1:p.Glu2819=
NM_001369.3:c.9855A= MANE Select	NP_001360.1:p.Glu3285=