Canonical Allele Identifier: CA1528496047

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913816G= , CM000667.2:g.13913816G=	GRCh38
NC_000005.9:g.13913925G= , CM000667.1:g.13913925G=	GRCh37
NC_000005.8:g.13966925G=	NCBI36
NG_013081.1:g.35665C=
NG_013081.2:g.35665C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1519C=
ENST00000682376.1:n.5692C=
ENST00000683011.1:n.1402C=
ENST00000683967.1:n.3828C=
ENST00000684013.1:n.2123C=
ENST00000684099.1:n.2119C=
ENST00000265104.5:c.1463C= MANE Select	ENSP00000265104.4:p.Thr488=
ENST00000680213.1:c.1223C=	ENSP00000506622.1:p.Thr408=
ENST00000681290.1:c.1418C=	ENSP00000505288.1:p.Thr473=
ENST00000265104.4:c.1463C=	ENSP00000265104.4:p.Thr488=
ENST00000508040.1:n.1871C=
NM_001369.2:c.1463C=	NP_001360.1:p.Thr488=
XM_005248262.2:c.1418C=	XP_005248319.1:p.Thr473=
XM_011513990.1:c.1463C=	XP_011512292.1:p.Thr488=
XR_925598.1:n.1670C=
XM_005248262.3:c.1571C=	XP_005248319.2:p.Thr524=
XM_017009177.1:c.1571C=	XP_016864666.1:p.Thr524=
XM_017009178.1:c.476C=	XP_016864667.1:p.Thr159=
XM_017009179.2:c.476C=	XP_016864668.1:p.Thr159=
XM_017009180.1:c.1571C=	XP_016864669.1:p.Thr524=
XM_017009181.1:c.1571C=	XP_016864670.1:p.Thr524=
XM_017009182.1:c.1571C=	XP_016864671.1:p.Thr524=
XM_017009183.1:c.1571C=	XP_016864672.1:p.Thr524=
XM_017009184.1:c.1571C=	XP_016864673.1:p.Thr524=
XM_017009187.1:c.1571C=	XP_016864676.1:p.Thr524=
XM_024454388.1:c.476C=	XP_024310156.1:p.Thr159=
XM_024454389.1:c.65C=	XP_024310157.1:p.Thr22=
XR_001742034.1:n.1588C=
XR_001742035.1:n.1588C=
NM_001369.3:c.1463C= MANE Select	NP_001360.1:p.Thr488=