Canonical Allele Identifier: CA1528422948

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13752221C= , CM000667.2:g.13752221C=	GRCh38
NC_000005.9:g.13752330C= , CM000667.1:g.13752330C=	GRCh37
NC_000005.8:g.13805330C=	NCBI36
NG_013081.1:g.197260G=
NG_013081.2:g.197260G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.10941G= MANE Select	ENSP00000265104.4:p.Leu3647=
ENST00000681290.1:c.10896G=	ENSP00000505288.1:p.Leu3632=
ENST00000265104.4:c.10941G=	ENSP00000265104.4:p.Leu3647=
NM_001369.2:c.10941G=	NP_001360.1:p.Leu3647=
XM_005248262.2:c.10896G=	XP_005248319.1:p.Leu3632=
XM_005248262.3:c.11049G=	XP_005248319.2:p.Leu3683=
XM_017009177.1:c.11049G=	XP_016864666.1:p.Leu3683=
XM_017009178.1:c.9954G=	XP_016864667.1:p.Leu3318=
XM_017009179.2:c.9954G=	XP_016864668.1:p.Leu3318=
XM_017009180.1:c.11049G=	XP_016864669.1:p.Leu3683=
XM_017009181.1:c.11049G=	XP_016864670.1:p.Leu3683=
XM_017009182.1:c.11049G=	XP_016864671.1:p.Leu3683=
XM_017009185.1:c.6138G=	XP_016864674.1:p.Leu2046=
XM_017009186.1:c.5691G=	XP_016864675.1:p.Leu1897=
XM_017009188.1:c.5028G=	XP_016864677.1:p.Leu1676=
XM_024454388.1:c.9954G=	XP_024310156.1:p.Leu3318=
XM_024454389.1:c.9543G=	XP_024310157.1:p.Leu3181=
NM_001369.3:c.10941G= MANE Select	NP_001360.1:p.Leu3647=