Canonical Allele Identifier: CA3201535

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13716669G>A , CM000667.2:g.13716669G>A	GRCh38
NC_000005.9:g.13716778G>A , CM000667.1:g.13716778G>A	GRCh37
NC_000005.8:g.13769778G>A	NCBI36
NG_013081.1:g.232812C>T
NG_013081.2:g.232812C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12727C>T MANE Select	NP_001360.1:p.Arg4243Cys
ENST00000265104.5:c.12727C>T MANE Select	ENSP00000265104.4:p.Arg4243Cys
NM_001369.2:c.12727C>T	NP_001360.1:p.Arg4243Cys
ENST00000265104.4:c.12727C>T	ENSP00000265104.4:p.Arg4243Cys
ENST00000681290.1:c.12682C>T	ENSP00000505288.1:p.Arg4228Cys
XM_005248262.2:c.12682C>T	XP_005248319.1:p.Arg4228Cys
XM_005248262.3:c.12835C>T	XP_005248319.2:p.Arg4279Cys
XM_017009177.1:c.12813+646C>T	XP_016864666.1:n.12813+646C>T
XM_017009178.1:c.11740C>T	XP_016864667.1:p.Arg3914Cys
XM_017009179.2:c.11740C>T	XP_016864668.1:p.Arg3914Cys
XM_017009185.1:c.7924C>T	XP_016864674.1:p.Arg2642Cys
XM_017009186.1:c.7477C>T	XP_016864675.1:p.Arg2493Cys
XM_017009188.1:c.6814C>T	XP_016864677.1:p.Arg2272Cys
XM_024454388.1:c.11740C>T	XP_024310156.1:p.Arg3914Cys
XM_024454389.1:c.11329C>T	XP_024310157.1:p.Arg3777Cys