Canonical Allele Identifier: CA359228830

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13807704G>A , CM000667.2:g.13807704G>A	GRCh38
NC_000005.9:g.13807813G>A , CM000667.1:g.13807813G>A	GRCh37
NC_000005.8:g.13860813G>A	NCBI36
NG_013081.1:g.141777C>T
NG_013081.2:g.141777C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.7774C>T MANE Select	NP_001360.1:p.Gln2592Ter
ENST00000265104.5:c.7774C>T MANE Select	ENSP00000265104.4:p.Gln2592Ter
NM_001369.2:c.7774C>T	NP_001360.1:p.Gln2592Ter
ENST00000265104.4:c.7774C>T	ENSP00000265104.4:p.Gln2592Ter
ENST00000512443.1:n.630C>T
ENST00000681290.1:c.7729C>T	ENSP00000505288.1:p.Gln2577Ter
XM_005248262.2:c.7729C>T	XP_005248319.1:p.Gln2577Ter
XM_005248262.3:c.7882C>T	XP_005248319.2:p.Gln2628Ter
XM_011513990.1:c.7774C>T	XP_011512292.1:p.Gln2592Ter
XM_017009177.1:c.7882C>T	XP_016864666.1:p.Gln2628Ter
XM_017009178.1:c.6787C>T	XP_016864667.1:p.Gln2263Ter
XM_017009179.2:c.6787C>T	XP_016864668.1:p.Gln2263Ter
XM_017009180.1:c.7882C>T	XP_016864669.1:p.Gln2628Ter
XM_017009181.1:c.7882C>T	XP_016864670.1:p.Gln2628Ter
XM_017009182.1:c.7882C>T	XP_016864671.1:p.Gln2628Ter
XM_017009183.1:c.7882C>T	XP_016864672.1:p.Gln2628Ter
XM_017009184.1:c.7882C>T	XP_016864673.1:p.Gln2628Ter
XM_017009185.1:c.2971C>T	XP_016864674.1:p.Gln991Ter
XM_017009186.1:c.2524C>T	XP_016864675.1:p.Gln842Ter
XM_017009187.1:c.7882C>T	XP_016864676.1:p.Gln2628Ter
XM_017009188.1:c.1861C>T	XP_016864677.1:p.Gln621Ter
XM_024454388.1:c.6787C>T	XP_024310156.1:p.Gln2263Ter
XM_024454389.1:c.6376C>T	XP_024310157.1:p.Gln2126Ter
XR_001742034.1:n.7899C>T
XR_001742035.1:n.7899C>T
XR_925598.1:n.7981C>T