Canonical Allele Identifier: CA3202221

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13754307T>A , CM000667.2:g.13754307T>A	GRCh38
NC_000005.9:g.13754416T>A , CM000667.1:g.13754416T>A	GRCh37
NC_000005.8:g.13807416T>A	NCBI36
NG_013081.1:g.195174A>T
NG_013081.2:g.195174A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.10451A>T MANE Select	NP_001360.1:p.His3484Leu
ENST00000265104.5:c.10451A>T MANE Select	ENSP00000265104.4:p.His3484Leu
NM_001369.2:c.10451A>T	NP_001360.1:p.His3484Leu
ENST00000265104.4:c.10451A>T	ENSP00000265104.4:p.His3484Leu
ENST00000681290.1:c.10406A>T	ENSP00000505288.1:p.His3469Leu
XM_005248262.2:c.10406A>T	XP_005248319.1:p.His3469Leu
XM_005248262.3:c.10559A>T	XP_005248319.2:p.His3520Leu
XM_017009177.1:c.10559A>T	XP_016864666.1:p.His3520Leu
XM_017009178.1:c.9464A>T	XP_016864667.1:p.His3155Leu
XM_017009179.2:c.9464A>T	XP_016864668.1:p.His3155Leu
XM_017009180.1:c.10559A>T	XP_016864669.1:p.His3520Leu
XM_017009181.1:c.10559A>T	XP_016864670.1:p.His3520Leu
XM_017009182.1:c.10559A>T	XP_016864671.1:p.His3520Leu
XM_017009185.1:c.5648A>T	XP_016864674.1:p.His1883Leu
XM_017009186.1:c.5201A>T	XP_016864675.1:p.His1734Leu
XM_017009188.1:c.4538A>T	XP_016864677.1:p.His1513Leu
XM_024454388.1:c.9464A>T	XP_024310156.1:p.His3155Leu
XM_024454389.1:c.9053A>T	XP_024310157.1:p.His3018Leu