Canonical Allele Identifier: CA359199899

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13891113C>A , CM000667.2:g.13891113C>A	GRCh38
NC_000005.9:g.13891222C>A , CM000667.1:g.13891222C>A	GRCh37
NC_000005.8:g.13944222C>A	NCBI36
NG_013081.1:g.58368G>T
NG_013081.2:g.58368G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.2440G>T MANE Select	NP_001360.1:p.Glu814Ter
ENST00000265104.5:c.2440G>T MANE Select	ENSP00000265104.4:p.Glu814Ter
NM_001369.2:c.2440G>T	NP_001360.1:p.Glu814Ter
ENST00000265104.4:c.2440G>T	ENSP00000265104.4:p.Glu814Ter
ENST00000681290.1:c.2395G>T	ENSP00000505288.1:p.Glu799Ter
XM_005248262.2:c.2395G>T	XP_005248319.1:p.Glu799Ter
XM_005248262.3:c.2548G>T	XP_005248319.2:p.Glu850Ter
XM_011513990.1:c.2440G>T	XP_011512292.1:p.Glu814Ter
XM_017009177.1:c.2548G>T	XP_016864666.1:p.Glu850Ter
XM_017009178.1:c.1453G>T	XP_016864667.1:p.Glu485Ter
XM_017009179.2:c.1453G>T	XP_016864668.1:p.Glu485Ter
XM_017009180.1:c.2548G>T	XP_016864669.1:p.Glu850Ter
XM_017009181.1:c.2548G>T	XP_016864670.1:p.Glu850Ter
XM_017009182.1:c.2548G>T	XP_016864671.1:p.Glu850Ter
XM_017009183.1:c.2548G>T	XP_016864672.1:p.Glu850Ter
XM_017009184.1:c.2548G>T	XP_016864673.1:p.Glu850Ter
XM_017009187.1:c.2548G>T	XP_016864676.1:p.Glu850Ter
XM_024454388.1:c.1453G>T	XP_024310156.1:p.Glu485Ter
XM_024454389.1:c.1042G>T	XP_024310157.1:p.Glu348Ter
XR_001742034.1:n.2565G>T
XR_001742035.1:n.2565G>T
XR_925598.1:n.2647G>T