Canonical Allele Identifier: CA3201709

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721067C>T , CM000667.2:g.13721067C>T	GRCh38
NC_000005.9:g.13721176C>T , CM000667.1:g.13721176C>T	GRCh37
NC_000005.8:g.13774176C>T	NCBI36
NG_013081.1:g.228414G>A
NG_013081.2:g.228414G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12212G>A MANE Select	NP_001360.1:p.Arg4071His
ENST00000265104.5:c.12212G>A MANE Select	ENSP00000265104.4:p.Arg4071His
NM_001369.2:c.12212G>A	NP_001360.1:p.Arg4071His
ENST00000265104.4:c.12212G>A	ENSP00000265104.4:p.Arg4071His
ENST00000681290.1:c.12167G>A	ENSP00000505288.1:p.Arg4056His
XM_005248262.2:c.12167G>A	XP_005248319.1:p.Arg4056His
XM_005248262.3:c.12320G>A	XP_005248319.2:p.Arg4107His
XM_017009177.1:c.12320G>A	XP_016864666.1:p.Arg4107His
XM_017009178.1:c.11225G>A	XP_016864667.1:p.Arg3742His
XM_017009179.2:c.11225G>A	XP_016864668.1:p.Arg3742His
XM_017009180.1:c.12320G>A	XP_016864669.1:p.Arg4107His
XM_017009185.1:c.7409G>A	XP_016864674.1:p.Arg2470His
XM_017009186.1:c.6962G>A	XP_016864675.1:p.Arg2321His
XM_017009188.1:c.6299G>A	XP_016864677.1:p.Arg2100His
XM_024454388.1:c.11225G>A	XP_024310156.1:p.Arg3742His
XM_024454389.1:c.10814G>A	XP_024310157.1:p.Arg3605His