Canonical Allele Identifier: CA1528399929

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701390A= , CM000667.2:g.13701390A=	GRCh38
NC_000005.9:g.13701499A= , CM000667.1:g.13701499A=	GRCh37
NC_000005.8:g.13754499A=	NCBI36
NG_013081.1:g.248091T=
NG_013081.2:g.248091T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.718T=
ENST00000265104.5:c.13385T= MANE Select	ENSP00000265104.4:p.Ile4462=
ENST00000681290.1:c.13340T=	ENSP00000505288.1:p.Ile4447=
ENST00000265104.4:c.13385T=	ENSP00000265104.4:p.Ile4462=
NM_001369.2:c.13385T=	NP_001360.1:p.Ile4462=
XM_005248262.2:c.13340T=	XP_005248319.1:p.Ile4447=
XM_005248262.3:c.13493T=	XP_005248319.2:p.Ile4498=
XM_017009177.1:c.13073T=	XP_016864666.1:p.Ile4358=
XM_017009178.1:c.12398T=	XP_016864667.1:p.Ile4133=
XM_017009179.2:c.12398T=	XP_016864668.1:p.Ile4133=
XM_017009185.1:c.8582T=	XP_016864674.1:p.Ile2861=
XM_017009186.1:c.8135T=	XP_016864675.1:p.Ile2712=
XM_017009188.1:c.7472T=	XP_016864677.1:p.Ile2491=
XM_024454388.1:c.12398T=	XP_024310156.1:p.Ile4133=
XM_024454389.1:c.11987T=	XP_024310157.1:p.Ile3996=
NM_001369.3:c.13385T= MANE Select	NP_001360.1:p.Ile4462=