Canonical Allele Identifier: CA3202315

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13762811G>A , CM000667.2:g.13762811G>A	GRCh38
NC_000005.9:g.13762920G>A , CM000667.1:g.13762920G>A	GRCh37
NC_000005.8:g.13815920G>A	NCBI36
NG_013081.1:g.186670C>T
NG_013081.2:g.186670C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.10192C>T MANE Select	NP_001360.1:p.Arg3398Cys
ENST00000265104.5:c.10192C>T MANE Select	ENSP00000265104.4:p.Arg3398Cys
NM_001369.2:c.10192C>T	NP_001360.1:p.Arg3398Cys
ENST00000265104.4:c.10192C>T	ENSP00000265104.4:p.Arg3398Cys
ENST00000504001.3:n.700C>T
ENST00000681290.1:c.10147C>T	ENSP00000505288.1:p.Arg3383Cys
XM_005248262.2:c.10147C>T	XP_005248319.1:p.Arg3383Cys
XM_005248262.3:c.10300C>T	XP_005248319.2:p.Arg3434Cys
XM_017009177.1:c.10300C>T	XP_016864666.1:p.Arg3434Cys
XM_017009178.1:c.9205C>T	XP_016864667.1:p.Arg3069Cys
XM_017009179.2:c.9205C>T	XP_016864668.1:p.Arg3069Cys
XM_017009180.1:c.10300C>T	XP_016864669.1:p.Arg3434Cys
XM_017009181.1:c.10300C>T	XP_016864670.1:p.Arg3434Cys
XM_017009182.1:c.10300C>T	XP_016864671.1:p.Arg3434Cys
XM_017009185.1:c.5389C>T	XP_016864674.1:p.Arg1797Cys
XM_017009186.1:c.4942C>T	XP_016864675.1:p.Arg1648Cys
XM_017009188.1:c.4279C>T	XP_016864677.1:p.Arg1427Cys
XM_024454388.1:c.9205C>T	XP_024310156.1:p.Arg3069Cys
XM_024454389.1:c.8794C>T	XP_024310157.1:p.Arg2932Cys