Canonical Allele Identifier: CA1528431214

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13770864A= , CM000667.2:g.13770864A=	GRCh38
NC_000005.9:g.13770973A= , CM000667.1:g.13770973A=	GRCh37
NC_000005.8:g.13823973A=	NCBI36
NG_013081.1:g.178617T=
NG_013081.2:g.178617T=

Transcript Alleles

HGVS	Amino-acid change
ENST00000265104.5:c.9490T= MANE Select	ENSP00000265104.4:p.Phe3164=
ENST00000681290.1:c.9445T=	ENSP00000505288.1:p.Phe3149=
ENST00000265104.4:c.9490T=	ENSP00000265104.4:p.Phe3164=
ENST00000504001.3:n.202T=
NM_001369.2:c.9490T=	NP_001360.1:p.Phe3164=
XM_005248262.2:c.9445T=	XP_005248319.1:p.Phe3149=
XM_005248262.3:c.9598T=	XP_005248319.2:p.Phe3200=
XM_017009177.1:c.9598T=	XP_016864666.1:p.Phe3200=
XM_017009178.1:c.8503T=	XP_016864667.1:p.Phe2835=
XM_017009179.2:c.8503T=	XP_016864668.1:p.Phe2835=
XM_017009180.1:c.9598T=	XP_016864669.1:p.Phe3200=
XM_017009181.1:c.9598T=	XP_016864670.1:p.Phe3200=
XM_017009182.1:c.9598T=	XP_016864671.1:p.Phe3200=
XM_017009183.1:c.9598T=	XP_016864672.1:p.Phe3200=
XM_017009185.1:c.4687T=	XP_016864674.1:p.Phe1563=
XM_017009186.1:c.4240T=	XP_016864675.1:p.Phe1414=
XM_017009188.1:c.3577T=	XP_016864677.1:p.Phe1193=
XM_024454388.1:c.8503T=	XP_024310156.1:p.Phe2835=
XM_024454389.1:c.8092T=	XP_024310157.1:p.Phe2698=
NM_001369.3:c.9490T= MANE Select	NP_001360.1:p.Phe3164=