Canonical Allele Identifier: CA3205246

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13928164A>T , CM000667.2:g.13928164A>T	GRCh38
NC_000005.9:g.13928273A>T , CM000667.1:g.13928273A>T	GRCh37
NC_000005.8:g.13981273A>T	NCBI36
NG_013081.1:g.21317T>A
NG_013081.2:g.21317T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.207T>A MANE Select	NP_001360.1:p.Asp69Glu
ENST00000265104.5:c.207T>A MANE Select	ENSP00000265104.4:p.Asp69Glu
NM_001369.2:c.207T>A	NP_001360.1:p.Asp69Glu
ENST00000265104.4:c.207T>A	ENSP00000265104.4:p.Asp69Glu
ENST00000508040.1:n.566T>A
ENST00000680213.1:c.-34T>A	ENSP00000506622.1:n.-34T>A
ENST00000680213.2:n.263T>A
ENST00000681290.1:c.162T>A	ENSP00000505288.1:p.Asp54Glu
ENST00000682376.1:n.251T>A
ENST00000682586.1:n.251T>A
ENST00000683011.1:n.241T>A
ENST00000683967.1:n.257T>A
ENST00000684013.1:n.257T>A
ENST00000684099.1:n.302T>A
XM_005248262.2:c.162T>A	XP_005248319.1:p.Asp54Glu
XM_005248262.3:c.315T>A	XP_005248319.2:p.Asp105Glu
XM_011513990.1:c.207T>A	XP_011512292.1:p.Asp69Glu
XM_017009177.1:c.315T>A	XP_016864666.1:p.Asp105Glu
XM_017009178.1:c.-830T>A	XP_016864667.1:n.-830T>A
XM_017009180.1:c.315T>A	XP_016864669.1:p.Asp105Glu
XM_017009181.1:c.315T>A	XP_016864670.1:p.Asp105Glu
XM_017009182.1:c.315T>A	XP_016864671.1:p.Asp105Glu
XM_017009183.1:c.315T>A	XP_016864672.1:p.Asp105Glu
XM_017009184.1:c.315T>A	XP_016864673.1:p.Asp105Glu
XM_017009187.1:c.315T>A	XP_016864676.1:p.Asp105Glu
XM_024454388.1:c.-2700T>A	XP_024310156.1:n.-2700T>A
XM_024454389.1:c.-1753T>A	XP_024310157.1:n.-1753T>A
XR_001742034.1:n.332T>A
XR_001742035.1:n.332T>A
XR_925598.1:n.414T>A