Canonical Allele Identifier: CA1528435122

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13776534T= , CM000667.2:g.13776534T=	GRCh38
NC_000005.9:g.13776643T= , CM000667.1:g.13776643T=	GRCh37
NC_000005.8:g.13829643T=	NCBI36
NG_013081.1:g.172947A=
NG_013081.2:g.172947A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9278A= MANE Select	ENSP00000265104.4:p.Glu3093=
ENST00000681290.1:c.9233A=	ENSP00000505288.1:p.Glu3078=
ENST00000265104.4:c.9278A=	ENSP00000265104.4:p.Glu3093=
NM_001369.2:c.9278A=	NP_001360.1:p.Glu3093=
XM_005248262.2:c.9233A=	XP_005248319.1:p.Glu3078=
XM_005248262.3:c.9386A=	XP_005248319.2:p.Glu3129=
XM_017009177.1:c.9386A=	XP_016864666.1:p.Glu3129=
XM_017009178.1:c.8291A=	XP_016864667.1:p.Glu2764=
XM_017009179.2:c.8291A=	XP_016864668.1:p.Glu2764=
XM_017009180.1:c.9386A=	XP_016864669.1:p.Glu3129=
XM_017009181.1:c.9386A=	XP_016864670.1:p.Glu3129=
XM_017009182.1:c.9386A=	XP_016864671.1:p.Glu3129=
XM_017009183.1:c.9386A=	XP_016864672.1:p.Glu3129=
XM_017009185.1:c.4475A=	XP_016864674.1:p.Glu1492=
XM_017009186.1:c.4028A=	XP_016864675.1:p.Glu1343=
XM_017009188.1:c.3365A=	XP_016864677.1:p.Glu1122=
XM_024454388.1:c.8291A=	XP_024310156.1:p.Glu2764=
XM_024454389.1:c.7880A=	XP_024310157.1:p.Glu2627=
NM_001369.3:c.9278A= MANE Select	NP_001360.1:p.Glu3093=