Canonical Allele Identifier: CA359228572

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13737444T>A , CM000667.2:g.13737444T>A	GRCh38
NC_000005.9:g.13737553T>A , CM000667.1:g.13737553T>A	GRCh37
NC_000005.8:g.13790553T>A	NCBI36
NG_013081.1:g.212037A>T
NG_013081.2:g.212037A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.11263A>T MANE Select	NP_001360.1:p.Arg3755Ter
ENST00000265104.5:c.11263A>T MANE Select	ENSP00000265104.4:p.Arg3755Ter
NM_001369.2:c.11263A>T	NP_001360.1:p.Arg3755Ter
ENST00000265104.4:c.11263A>T	ENSP00000265104.4:p.Arg3755Ter
ENST00000681290.1:c.11218A>T	ENSP00000505288.1:p.Arg3740Ter
XM_005248262.2:c.11218A>T	XP_005248319.1:p.Arg3740Ter
XM_005248262.3:c.11371A>T	XP_005248319.2:p.Arg3791Ter
XM_017009177.1:c.11371A>T	XP_016864666.1:p.Arg3791Ter
XM_017009178.1:c.10276A>T	XP_016864667.1:p.Arg3426Ter
XM_017009179.2:c.10276A>T	XP_016864668.1:p.Arg3426Ter
XM_017009180.1:c.11371A>T	XP_016864669.1:p.Arg3791Ter
XM_017009181.1:c.11371A>T	XP_016864670.1:p.Arg3791Ter
XM_017009182.1:c.11320-1512A>T	XP_016864671.1:n.11320-1512A>T
XM_017009185.1:c.6460A>T	XP_016864674.1:p.Arg2154Ter
XM_017009186.1:c.6013A>T	XP_016864675.1:p.Arg2005Ter
XM_017009188.1:c.5350A>T	XP_016864677.1:p.Arg1784Ter
XM_024454388.1:c.10276A>T	XP_024310156.1:p.Arg3426Ter
XM_024454389.1:c.9865A>T	XP_024310157.1:p.Arg3289Ter