Canonical Allele Identifier: CA3202313

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13762809G>A , CM000667.2:g.13762809G>A	GRCh38
NC_000005.9:g.13762918G>A , CM000667.1:g.13762918G>A	GRCh37
NC_000005.8:g.13815918G>A	NCBI36
NG_013081.1:g.186672C>T
NG_013081.2:g.186672C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.10194C>T MANE Select	NP_001360.1:p.Arg3398=
ENST00000265104.5:c.10194C>T MANE Select	ENSP00000265104.4:p.Arg3398=
NM_001369.2:c.10194C>T	NP_001360.1:p.Arg3398=
ENST00000265104.4:c.10194C>T	ENSP00000265104.4:p.Arg3398=
ENST00000504001.3:n.702C>T
ENST00000681290.1:c.10149C>T	ENSP00000505288.1:p.Arg3383=
XM_005248262.2:c.10149C>T	XP_005248319.1:p.Arg3383=
XM_005248262.3:c.10302C>T	XP_005248319.2:p.Arg3434=
XM_017009177.1:c.10302C>T	XP_016864666.1:p.Arg3434=
XM_017009178.1:c.9207C>T	XP_016864667.1:p.Arg3069=
XM_017009179.2:c.9207C>T	XP_016864668.1:p.Arg3069=
XM_017009180.1:c.10302C>T	XP_016864669.1:p.Arg3434=
XM_017009181.1:c.10302C>T	XP_016864670.1:p.Arg3434=
XM_017009182.1:c.10302C>T	XP_016864671.1:p.Arg3434=
XM_017009185.1:c.5391C>T	XP_016864674.1:p.Arg1797=
XM_017009186.1:c.4944C>T	XP_016864675.1:p.Arg1648=
XM_017009188.1:c.4281C>T	XP_016864677.1:p.Arg1427=
XM_024454388.1:c.9207C>T	XP_024310156.1:p.Arg3069=
XM_024454389.1:c.8796C>T	XP_024310157.1:p.Arg2932=