Canonical Allele Identifier: CA3202361

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13766101C>T , CM000667.2:g.13766101C>T	GRCh38
NC_000005.9:g.13766210C>T , CM000667.1:g.13766210C>T	GRCh37
NC_000005.8:g.13819210C>T	NCBI36
NG_013081.1:g.183380G>A
NG_013081.2:g.183380G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.9976G>A MANE Select	NP_001360.1:p.Val3326Ile
ENST00000265104.5:c.9976G>A MANE Select	ENSP00000265104.4:p.Val3326Ile
NM_001369.2:c.9976G>A	NP_001360.1:p.Val3326Ile
ENST00000265104.4:c.9976G>A	ENSP00000265104.4:p.Val3326Ile
ENST00000504001.3:n.609+2859G>A
ENST00000681290.1:c.9931G>A	ENSP00000505288.1:p.Val3311Ile
XM_005248262.2:c.9931G>A	XP_005248319.1:p.Val3311Ile
XM_005248262.3:c.10084G>A	XP_005248319.2:p.Val3362Ile
XM_017009177.1:c.10084G>A	XP_016864666.1:p.Val3362Ile
XM_017009178.1:c.8989G>A	XP_016864667.1:p.Val2997Ile
XM_017009179.2:c.8989G>A	XP_016864668.1:p.Val2997Ile
XM_017009180.1:c.10084G>A	XP_016864669.1:p.Val3362Ile
XM_017009181.1:c.10084G>A	XP_016864670.1:p.Val3362Ile
XM_017009182.1:c.10084G>A	XP_016864671.1:p.Val3362Ile
XM_017009185.1:c.5173G>A	XP_016864674.1:p.Val1725Ile
XM_017009186.1:c.4726G>A	XP_016864675.1:p.Val1576Ile
XM_017009188.1:c.4063G>A	XP_016864677.1:p.Val1355Ile
XM_024454388.1:c.8989G>A	XP_024310156.1:p.Val2997Ile
XM_024454389.1:c.8578G>A	XP_024310157.1:p.Val2860Ile