Canonical Allele Identifier: CA113967166

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13922290G>A , CM000667.2:g.13922290G>A	GRCh38
NC_000005.9:g.13922399G>A , CM000667.1:g.13922399G>A	GRCh37
NC_000005.8:g.13975399G>A	NCBI36
NG_013081.1:g.27191C>T
NG_013081.2:g.27191C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.477C>T MANE Select	NP_001360.1:p.Gly159=
ENST00000265104.5:c.477C>T MANE Select	ENSP00000265104.4:p.Gly159=
NM_001369.2:c.477C>T	NP_001360.1:p.Gly159=
ENST00000265104.4:c.477C>T	ENSP00000265104.4:p.Gly159=
ENST00000508040.1:n.836C>T
ENST00000680213.1:c.237C>T	ENSP00000506622.1:p.Gly79=
ENST00000680213.2:n.533C>T
ENST00000681290.1:c.432C>T	ENSP00000505288.1:p.Gly144=
ENST00000682376.1:n.521C>T
ENST00000682586.1:n.521C>T
ENST00000683011.1:n.416C>T
ENST00000683967.1:n.527C>T
ENST00000684013.1:n.527C>T
ENST00000684099.1:n.572C>T
XM_005248262.2:c.432C>T	XP_005248319.1:p.Gly144=
XM_005248262.3:c.585C>T	XP_005248319.2:p.Gly195=
XM_011513990.1:c.477C>T	XP_011512292.1:p.Gly159=
XM_017009177.1:c.585C>T	XP_016864666.1:p.Gly195=
XM_017009178.1:c.-560C>T	XP_016864667.1:n.-560C>T
XM_017009180.1:c.585C>T	XP_016864669.1:p.Gly195=
XM_017009181.1:c.585C>T	XP_016864670.1:p.Gly195=
XM_017009182.1:c.585C>T	XP_016864671.1:p.Gly195=
XM_017009183.1:c.585C>T	XP_016864672.1:p.Gly195=
XM_017009184.1:c.585C>T	XP_016864673.1:p.Gly195=
XM_017009187.1:c.585C>T	XP_016864676.1:p.Gly195=
XM_024454388.1:c.-2430C>T	XP_024310156.1:n.-2430C>T
XM_024454389.1:c.-1483C>T	XP_024310157.1:n.-1483C>T
XR_001742034.1:n.602C>T
XR_001742035.1:n.602C>T
XR_925598.1:n.684C>T