Canonical Allele Identifier: CA359218212

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13917247C>A , CM000667.2:g.13917247C>A	GRCh38
NC_000005.9:g.13917356C>A , CM000667.1:g.13917356C>A	GRCh37
NC_000005.8:g.13970356C>A	NCBI36
NG_013081.1:g.32234G>T
NG_013081.2:g.32234G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.985G>T MANE Select	NP_001360.1:p.Glu329Ter
ENST00000265104.5:c.985G>T MANE Select	ENSP00000265104.4:p.Glu329Ter
NM_001369.2:c.985G>T	NP_001360.1:p.Glu329Ter
ENST00000265104.4:c.985G>T	ENSP00000265104.4:p.Glu329Ter
ENST00000508040.1:n.1393G>T
ENST00000680213.1:c.745G>T	ENSP00000506622.1:p.Glu249Ter
ENST00000680213.2:n.1041G>T
ENST00000681290.1:c.940G>T	ENSP00000505288.1:p.Glu314Ter
ENST00000682376.1:n.2948G>T
ENST00000682586.1:n.2997G>T
ENST00000683011.1:n.924G>T
ENST00000683967.1:n.1084G>T
ENST00000684013.1:n.1084G>T
ENST00000684099.1:n.1080G>T
XM_005248262.2:c.940G>T	XP_005248319.1:p.Glu314Ter
XM_005248262.3:c.1093G>T	XP_005248319.2:p.Glu365Ter
XM_011513990.1:c.985G>T	XP_011512292.1:p.Glu329Ter
XM_017009177.1:c.1093G>T	XP_016864666.1:p.Glu365Ter
XM_017009178.1:c.-3G>T	XP_016864667.1:n.-3G>T
XM_017009179.2:c.-3G>T	XP_016864668.1:n.-3G>T
XM_017009180.1:c.1093G>T	XP_016864669.1:p.Glu365Ter
XM_017009181.1:c.1093G>T	XP_016864670.1:p.Glu365Ter
XM_017009182.1:c.1093G>T	XP_016864671.1:p.Glu365Ter
XM_017009183.1:c.1093G>T	XP_016864672.1:p.Glu365Ter
XM_017009184.1:c.1093G>T	XP_016864673.1:p.Glu365Ter
XM_017009187.1:c.1093G>T	XP_016864676.1:p.Glu365Ter
XM_024454388.1:c.-3G>T	XP_024310156.1:n.-3G>T
XM_024454389.1:c.-975G>T	XP_024310157.1:n.-975G>T
XR_001742034.1:n.1110G>T
XR_001742035.1:n.1110G>T
XR_925598.1:n.1192G>T