Canonical Allele Identifier: CA359189134

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13811685G>A , CM000667.2:g.13811685G>A	GRCh38
NC_000005.9:g.13811794G>A , CM000667.1:g.13811794G>A	GRCh37
NC_000005.8:g.13864794G>A	NCBI36
NG_013081.1:g.137796C>T
NG_013081.2:g.137796C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.7369C>T MANE Select	NP_001360.1:p.Gln2457Ter
ENST00000265104.5:c.7369C>T MANE Select	ENSP00000265104.4:p.Gln2457Ter
NM_001369.2:c.7369C>T	NP_001360.1:p.Gln2457Ter
ENST00000265104.4:c.7369C>T	ENSP00000265104.4:p.Gln2457Ter
ENST00000681290.1:c.7324C>T	ENSP00000505288.1:p.Gln2442Ter
XM_005248262.2:c.7324C>T	XP_005248319.1:p.Gln2442Ter
XM_005248262.3:c.7477C>T	XP_005248319.2:p.Gln2493Ter
XM_011513990.1:c.7369C>T	XP_011512292.1:p.Gln2457Ter
XM_017009177.1:c.7477C>T	XP_016864666.1:p.Gln2493Ter
XM_017009178.1:c.6382C>T	XP_016864667.1:p.Gln2128Ter
XM_017009179.2:c.6382C>T	XP_016864668.1:p.Gln2128Ter
XM_017009180.1:c.7477C>T	XP_016864669.1:p.Gln2493Ter
XM_017009181.1:c.7477C>T	XP_016864670.1:p.Gln2493Ter
XM_017009182.1:c.7477C>T	XP_016864671.1:p.Gln2493Ter
XM_017009183.1:c.7477C>T	XP_016864672.1:p.Gln2493Ter
XM_017009184.1:c.7477C>T	XP_016864673.1:p.Gln2493Ter
XM_017009185.1:c.2566C>T	XP_016864674.1:p.Gln856Ter
XM_017009186.1:c.2119C>T	XP_016864675.1:p.Gln707Ter
XM_017009187.1:c.7477C>T	XP_016864676.1:p.Gln2493Ter
XM_017009188.1:c.1456C>T	XP_016864677.1:p.Gln486Ter
XM_024454388.1:c.6382C>T	XP_024310156.1:p.Gln2128Ter
XM_024454389.1:c.5971C>T	XP_024310157.1:p.Gln1991Ter
XR_001742034.1:n.7494C>T
XR_001742035.1:n.7494C>T
XR_925598.1:n.7576C>T