Canonical Allele Identifier: CA3201748

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721242G>A , CM000667.2:g.13721242G>A	GRCh38
NC_000005.9:g.13721351G>A , CM000667.1:g.13721351G>A	GRCh37
NC_000005.8:g.13774351G>A	NCBI36
NG_013081.1:g.228239C>T
NG_013081.2:g.228239C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12037C>T MANE Select	NP_001360.1:p.Arg4013Cys
ENST00000265104.5:c.12037C>T MANE Select	ENSP00000265104.4:p.Arg4013Cys
NM_001369.2:c.12037C>T	NP_001360.1:p.Arg4013Cys
ENST00000265104.4:c.12037C>T	ENSP00000265104.4:p.Arg4013Cys
ENST00000681290.1:c.11992C>T	ENSP00000505288.1:p.Arg3998Cys
XM_005248262.2:c.11992C>T	XP_005248319.1:p.Arg3998Cys
XM_005248262.3:c.12145C>T	XP_005248319.2:p.Arg4049Cys
XM_017009177.1:c.12145C>T	XP_016864666.1:p.Arg4049Cys
XM_017009178.1:c.11050C>T	XP_016864667.1:p.Arg3684Cys
XM_017009179.2:c.11050C>T	XP_016864668.1:p.Arg3684Cys
XM_017009180.1:c.12145C>T	XP_016864669.1:p.Arg4049Cys
XM_017009185.1:c.7234C>T	XP_016864674.1:p.Arg2412Cys
XM_017009186.1:c.6787C>T	XP_016864675.1:p.Arg2263Cys
XM_017009188.1:c.6124C>T	XP_016864677.1:p.Arg2042Cys
XM_024454388.1:c.11050C>T	XP_024310156.1:p.Arg3684Cys
XM_024454389.1:c.10639C>T	XP_024310157.1:p.Arg3547Cys