Canonical Allele Identifier: CA1528458774

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13830667G= , CM000667.2:g.13830667G=	GRCh38
NC_000005.9:g.13830776G= , CM000667.1:g.13830776G=	GRCh37
NC_000005.8:g.13883776G=	NCBI36
NG_013081.1:g.118814C=
NG_013081.2:g.118814C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.922C=
ENST00000265104.5:c.5991C= MANE Select	ENSP00000265104.4:p.Leu1997=
ENST00000681290.1:c.5946C=	ENSP00000505288.1:p.Leu1982=
ENST00000265104.4:c.5991C=	ENSP00000265104.4:p.Leu1997=
NM_001369.2:c.5991C=	NP_001360.1:p.Leu1997=
XM_005248262.2:c.5946C=	XP_005248319.1:p.Leu1982=
XM_011513990.1:c.5991C=	XP_011512292.1:p.Leu1997=
XR_925598.1:n.6198C=
XM_005248262.3:c.6099C=	XP_005248319.2:p.Leu2033=
XM_017009177.1:c.6099C=	XP_016864666.1:p.Leu2033=
XM_017009178.1:c.5004C=	XP_016864667.1:p.Leu1668=
XM_017009179.2:c.5004C=	XP_016864668.1:p.Leu1668=
XM_017009180.1:c.6099C=	XP_016864669.1:p.Leu2033=
XM_017009181.1:c.6099C=	XP_016864670.1:p.Leu2033=
XM_017009182.1:c.6099C=	XP_016864671.1:p.Leu2033=
XM_017009183.1:c.6099C=	XP_016864672.1:p.Leu2033=
XM_017009184.1:c.6099C=	XP_016864673.1:p.Leu2033=
XM_017009185.1:c.1188C=	XP_016864674.1:p.Leu396=
XM_017009186.1:c.741C=	XP_016864675.1:p.Leu247=
XM_017009187.1:c.6099C=	XP_016864676.1:p.Leu2033=
XM_017009188.1:c.78C=	XP_016864677.1:p.Leu26=
XM_024454388.1:c.5004C=	XP_024310156.1:p.Leu1668=
XM_024454389.1:c.4593C=	XP_024310157.1:p.Leu1531=
XR_001742034.1:n.6116C=
XR_001742035.1:n.6116C=
NM_001369.3:c.5991C= MANE Select	NP_001360.1:p.Leu1997=