Canonical Allele Identifier: CA359227174

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13928139G>A , CM000667.2:g.13928139G>A	GRCh38
NC_000005.9:g.13928248G>A , CM000667.1:g.13928248G>A	GRCh37
NC_000005.8:g.13981248G>A	NCBI36
NG_013081.1:g.21342C>T
NG_013081.2:g.21342C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.232C>T MANE Select	NP_001360.1:p.Arg78Ter
ENST00000265104.5:c.232C>T MANE Select	ENSP00000265104.4:p.Arg78Ter
NM_001369.2:c.232C>T	NP_001360.1:p.Arg78Ter
ENST00000265104.4:c.232C>T	ENSP00000265104.4:p.Arg78Ter
ENST00000508040.1:n.591C>T
ENST00000680213.1:c.-9C>T	ENSP00000506622.1:n.-9C>T
ENST00000680213.2:n.288C>T
ENST00000681290.1:c.187C>T	ENSP00000505288.1:p.Arg63Ter
ENST00000682376.1:n.276C>T
ENST00000682586.1:n.276C>T
ENST00000683011.1:n.266C>T
ENST00000683967.1:n.282C>T
ENST00000684013.1:n.282C>T
ENST00000684099.1:n.327C>T
XM_005248262.2:c.187C>T	XP_005248319.1:p.Arg63Ter
XM_005248262.3:c.340C>T	XP_005248319.2:p.Arg114Ter
XM_011513990.1:c.232C>T	XP_011512292.1:p.Arg78Ter
XM_017009177.1:c.340C>T	XP_016864666.1:p.Arg114Ter
XM_017009178.1:c.-805C>T	XP_016864667.1:n.-805C>T
XM_017009180.1:c.340C>T	XP_016864669.1:p.Arg114Ter
XM_017009181.1:c.340C>T	XP_016864670.1:p.Arg114Ter
XM_017009182.1:c.340C>T	XP_016864671.1:p.Arg114Ter
XM_017009183.1:c.340C>T	XP_016864672.1:p.Arg114Ter
XM_017009184.1:c.340C>T	XP_016864673.1:p.Arg114Ter
XM_017009187.1:c.340C>T	XP_016864676.1:p.Arg114Ter
XM_024454388.1:c.-2675C>T	XP_024310156.1:n.-2675C>T
XM_024454389.1:c.-1728C>T	XP_024310157.1:n.-1728C>T
XR_001742034.1:n.357C>T
XR_001742035.1:n.357C>T
XR_925598.1:n.439C>T