Canonical Allele Identifier: CA3201703

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721029G>A , CM000667.2:g.13721029G>A	GRCh38
NC_000005.9:g.13721138G>A , CM000667.1:g.13721138G>A	GRCh37
NC_000005.8:g.13774138G>A	NCBI36
NG_013081.1:g.228452C>T
NG_013081.2:g.228452C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12250C>T MANE Select	NP_001360.1:p.Arg4084Trp
ENST00000265104.5:c.12250C>T MANE Select	ENSP00000265104.4:p.Arg4084Trp
NM_001369.2:c.12250C>T	NP_001360.1:p.Arg4084Trp
ENST00000265104.4:c.12250C>T	ENSP00000265104.4:p.Arg4084Trp
ENST00000681290.1:c.12205C>T	ENSP00000505288.1:p.Arg4069Trp
XM_005248262.2:c.12205C>T	XP_005248319.1:p.Arg4069Trp
XM_005248262.3:c.12358C>T	XP_005248319.2:p.Arg4120Trp
XM_017009177.1:c.12358C>T	XP_016864666.1:p.Arg4120Trp
XM_017009178.1:c.11263C>T	XP_016864667.1:p.Arg3755Trp
XM_017009179.2:c.11263C>T	XP_016864668.1:p.Arg3755Trp
XM_017009180.1:c.12358C>T	XP_016864669.1:p.Arg4120Trp
XM_017009185.1:c.7447C>T	XP_016864674.1:p.Arg2483Trp
XM_017009186.1:c.7000C>T	XP_016864675.1:p.Arg2334Trp
XM_017009188.1:c.6337C>T	XP_016864677.1:p.Arg2113Trp
XM_024454388.1:c.11263C>T	XP_024310156.1:p.Arg3755Trp
XM_024454389.1:c.10852C>T	XP_024310157.1:p.Arg3618Trp