Canonical Allele Identifier: CA3201713

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721073T>A , CM000667.2:g.13721073T>A	GRCh38
NC_000005.9:g.13721182T>A , CM000667.1:g.13721182T>A	GRCh37
NC_000005.8:g.13774182T>A	NCBI36
NG_013081.1:g.228408A>T
NG_013081.2:g.228408A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12206A>T MANE Select	NP_001360.1:p.Glu4069Val
ENST00000265104.5:c.12206A>T MANE Select	ENSP00000265104.4:p.Glu4069Val
NM_001369.2:c.12206A>T	NP_001360.1:p.Glu4069Val
ENST00000265104.4:c.12206A>T	ENSP00000265104.4:p.Glu4069Val
ENST00000681290.1:c.12161A>T	ENSP00000505288.1:p.Glu4054Val
XM_005248262.2:c.12161A>T	XP_005248319.1:p.Glu4054Val
XM_005248262.3:c.12314A>T	XP_005248319.2:p.Glu4105Val
XM_017009177.1:c.12314A>T	XP_016864666.1:p.Glu4105Val
XM_017009178.1:c.11219A>T	XP_016864667.1:p.Glu3740Val
XM_017009179.2:c.11219A>T	XP_016864668.1:p.Glu3740Val
XM_017009180.1:c.12314A>T	XP_016864669.1:p.Glu4105Val
XM_017009185.1:c.7403A>T	XP_016864674.1:p.Glu2468Val
XM_017009186.1:c.6956A>T	XP_016864675.1:p.Glu2319Val
XM_017009188.1:c.6293A>T	XP_016864677.1:p.Glu2098Val
XM_024454388.1:c.11219A>T	XP_024310156.1:p.Glu3740Val
XM_024454389.1:c.10808A>T	XP_024310157.1:p.Glu3603Val