Canonical Allele Identifier: CA359224062

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13923393T>A , CM000667.2:g.13923393T>A	GRCh38
NC_000005.9:g.13923502T>A , CM000667.1:g.13923502T>A	GRCh37
NC_000005.8:g.13976502T>A	NCBI36
NG_013081.1:g.26088A>T
NG_013081.2:g.26088A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.325A>T MANE Select	NP_001360.1:p.Lys109Ter
ENST00000265104.5:c.325A>T MANE Select	ENSP00000265104.4:p.Lys109Ter
NM_001369.2:c.325A>T	NP_001360.1:p.Lys109Ter
ENST00000265104.4:c.325A>T	ENSP00000265104.4:p.Lys109Ter
ENST00000508040.1:n.684A>T
ENST00000680213.1:c.85A>T	ENSP00000506622.1:p.Lys29Ter
ENST00000680213.2:n.381A>T
ENST00000681290.1:c.280A>T	ENSP00000505288.1:p.Lys94Ter
ENST00000682376.1:n.369A>T
ENST00000682586.1:n.369A>T
ENST00000683011.1:n.334+25A>T
ENST00000683967.1:n.375A>T
ENST00000684013.1:n.375A>T
ENST00000684099.1:n.420A>T
XM_005248262.2:c.280A>T	XP_005248319.1:p.Lys94Ter
XM_005248262.3:c.433A>T	XP_005248319.2:p.Lys145Ter
XM_011513990.1:c.325A>T	XP_011512292.1:p.Lys109Ter
XM_017009177.1:c.433A>T	XP_016864666.1:p.Lys145Ter
XM_017009178.1:c.-712A>T	XP_016864667.1:n.-712A>T
XM_017009180.1:c.433A>T	XP_016864669.1:p.Lys145Ter
XM_017009181.1:c.433A>T	XP_016864670.1:p.Lys145Ter
XM_017009182.1:c.433A>T	XP_016864671.1:p.Lys145Ter
XM_017009183.1:c.433A>T	XP_016864672.1:p.Lys145Ter
XM_017009184.1:c.433A>T	XP_016864673.1:p.Lys145Ter
XM_017009187.1:c.433A>T	XP_016864676.1:p.Lys145Ter
XM_024454388.1:c.-2582A>T	XP_024310156.1:n.-2582A>T
XM_024454389.1:c.-1635A>T	XP_024310157.1:n.-1635A>T
XR_001742034.1:n.450A>T
XR_001742035.1:n.450A>T
XR_925598.1:n.532A>T