Canonical Allele Identifier: CA1528496035

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13913783G= , CM000667.2:g.13913783G=	GRCh38
NC_000005.9:g.13913892G= , CM000667.1:g.13913892G=	GRCh37
NC_000005.8:g.13966892G=	NCBI36
NG_013081.1:g.35698C=
NG_013081.2:g.35698C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000680213.2:n.1552C=
ENST00000682376.1:n.5725C=
ENST00000683011.1:n.1435C=
ENST00000683967.1:n.3861C=
ENST00000684013.1:n.2156C=
ENST00000684099.1:n.2152C=
ENST00000265104.5:c.1496C= MANE Select	ENSP00000265104.4:p.Ser499=
ENST00000680213.1:c.1256C=	ENSP00000506622.1:p.Ser419=
ENST00000681290.1:c.1451C=	ENSP00000505288.1:p.Ser484=
ENST00000265104.4:c.1496C=	ENSP00000265104.4:p.Ser499=
ENST00000508040.1:n.1904C=
NM_001369.2:c.1496C=	NP_001360.1:p.Ser499=
XM_005248262.2:c.1451C=	XP_005248319.1:p.Ser484=
XM_011513990.1:c.1496C=	XP_011512292.1:p.Ser499=
XR_925598.1:n.1703C=
XM_005248262.3:c.1604C=	XP_005248319.2:p.Ser535=
XM_017009177.1:c.1604C=	XP_016864666.1:p.Ser535=
XM_017009178.1:c.509C=	XP_016864667.1:p.Ser170=
XM_017009179.2:c.509C=	XP_016864668.1:p.Ser170=
XM_017009180.1:c.1604C=	XP_016864669.1:p.Ser535=
XM_017009181.1:c.1604C=	XP_016864670.1:p.Ser535=
XM_017009182.1:c.1604C=	XP_016864671.1:p.Ser535=
XM_017009183.1:c.1604C=	XP_016864672.1:p.Ser535=
XM_017009184.1:c.1604C=	XP_016864673.1:p.Ser535=
XM_017009187.1:c.1604C=	XP_016864676.1:p.Ser535=
XM_024454388.1:c.509C=	XP_024310156.1:p.Ser170=
XM_024454389.1:c.98C=	XP_024310157.1:p.Ser33=
XR_001742034.1:n.1621C=
XR_001742035.1:n.1621C=
NM_001369.3:c.1496C= MANE Select	NP_001360.1:p.Ser499=