Canonical Allele Identifier: CA359210946

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13777288T>A , CM000667.2:g.13777288T>A	GRCh38
NC_000005.9:g.13777397T>A , CM000667.1:g.13777397T>A	GRCh37
NC_000005.8:g.13830397T>A	NCBI36
NG_013081.1:g.172193A>T
NG_013081.2:g.172193A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9019A>T MANE Select	NP_001360.1:p.Lys3007Ter
ENST00000265104.5:c.9019A>T MANE Select	ENSP00000265104.4:p.Lys3007Ter
NM_001369.2:c.9019A>T	NP_001360.1:p.Lys3007Ter
ENST00000265104.4:c.9019A>T	ENSP00000265104.4:p.Lys3007Ter
ENST00000681290.1:c.8974A>T	ENSP00000505288.1:p.Lys2992Ter
XM_005248262.2:c.8974A>T	XP_005248319.1:p.Lys2992Ter
XM_005248262.3:c.9127A>T	XP_005248319.2:p.Lys3043Ter
XM_011513990.1:c.9019A>T	XP_011512292.1:p.Lys3007Ter
XM_017009177.1:c.9127A>T	XP_016864666.1:p.Lys3043Ter
XM_017009178.1:c.8032A>T	XP_016864667.1:p.Lys2678Ter
XM_017009179.2:c.8032A>T	XP_016864668.1:p.Lys2678Ter
XM_017009180.1:c.9127A>T	XP_016864669.1:p.Lys3043Ter
XM_017009181.1:c.9127A>T	XP_016864670.1:p.Lys3043Ter
XM_017009182.1:c.9127A>T	XP_016864671.1:p.Lys3043Ter
XM_017009183.1:c.9127A>T	XP_016864672.1:p.Lys3043Ter
XM_017009184.1:c.9127A>T	XP_016864673.1:p.Lys3043Ter
XM_017009185.1:c.4216A>T	XP_016864674.1:p.Lys1406Ter
XM_017009186.1:c.3769A>T	XP_016864675.1:p.Lys1257Ter
XM_017009188.1:c.3106A>T	XP_016864677.1:p.Lys1036Ter
XM_024454388.1:c.8032A>T	XP_024310156.1:p.Lys2678Ter
XM_024454389.1:c.7621A>T	XP_024310157.1:p.Lys2541Ter
XR_001742034.1:n.9013A>T
XR_001742035.1:n.9013A>T
XR_925598.1:n.9095A>T