Canonical Allele Identifier: CA1528399888

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13701303A= , CM000667.2:g.13701303A=	GRCh38
NC_000005.9:g.13701412A= , CM000667.1:g.13701412A=	GRCh37
NC_000005.8:g.13754412A=	NCBI36
NG_013081.1:g.248178T=
NG_013081.2:g.248178T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.805T=
ENST00000265104.5:c.13472T= MANE Select	ENSP00000265104.4:p.Phe4491=
ENST00000681290.1:c.13427T=	ENSP00000505288.1:p.Phe4476=
ENST00000265104.4:c.13472T=	ENSP00000265104.4:p.Phe4491=
NM_001369.2:c.13472T=	NP_001360.1:p.Phe4491=
XM_005248262.2:c.13427T=	XP_005248319.1:p.Phe4476=
XM_005248262.3:c.13580T=	XP_005248319.2:p.Phe4527=
XM_017009177.1:c.13160T=	XP_016864666.1:p.Phe4387=
XM_017009178.1:c.12485T=	XP_016864667.1:p.Phe4162=
XM_017009179.2:c.12485T=	XP_016864668.1:p.Phe4162=
XM_017009185.1:c.8669T=	XP_016864674.1:p.Phe2890=
XM_017009186.1:c.8222T=	XP_016864675.1:p.Phe2741=
XM_017009188.1:c.7559T=	XP_016864677.1:p.Phe2520=
XM_024454388.1:c.12485T=	XP_024310156.1:p.Phe4162=
XM_024454389.1:c.12074T=	XP_024310157.1:p.Phe4025=
NM_001369.3:c.13472T= MANE Select	NP_001360.1:p.Phe4491=