Canonical Allele Identifier: CA1528458108

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13829623G= , CM000667.2:g.13829623G=	GRCh38
NC_000005.9:g.13829732G= , CM000667.1:g.13829732G=	GRCh37
NC_000005.8:g.13882732G=	NCBI36
NG_013081.1:g.119858C=
NG_013081.2:g.119858C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683090.1:n.1262C=
ENST00000265104.5:c.6331C= MANE Select	ENSP00000265104.4:p.Arg2111=
ENST00000681290.1:c.6286C=	ENSP00000505288.1:p.Arg2096=
ENST00000265104.4:c.6331C=	ENSP00000265104.4:p.Arg2111=
NM_001369.2:c.6331C=	NP_001360.1:p.Arg2111=
XM_005248262.2:c.6286C=	XP_005248319.1:p.Arg2096=
XM_011513990.1:c.6331C=	XP_011512292.1:p.Arg2111=
XR_925598.1:n.6538C=
XM_005248262.3:c.6439C=	XP_005248319.2:p.Arg2147=
XM_017009177.1:c.6439C=	XP_016864666.1:p.Arg2147=
XM_017009178.1:c.5344C=	XP_016864667.1:p.Arg1782=
XM_017009179.2:c.5344C=	XP_016864668.1:p.Arg1782=
XM_017009180.1:c.6439C=	XP_016864669.1:p.Arg2147=
XM_017009181.1:c.6439C=	XP_016864670.1:p.Arg2147=
XM_017009182.1:c.6439C=	XP_016864671.1:p.Arg2147=
XM_017009183.1:c.6439C=	XP_016864672.1:p.Arg2147=
XM_017009184.1:c.6439C=	XP_016864673.1:p.Arg2147=
XM_017009185.1:c.1528C=	XP_016864674.1:p.Arg510=
XM_017009186.1:c.1081C=	XP_016864675.1:p.Arg361=
XM_017009187.1:c.6439C=	XP_016864676.1:p.Arg2147=
XM_017009188.1:c.418C=	XP_016864677.1:p.Arg140=
XM_024454388.1:c.5344C=	XP_024310156.1:p.Arg1782=
XM_024454389.1:c.4933C=	XP_024310157.1:p.Arg1645=
XR_001742034.1:n.6456C=
XR_001742035.1:n.6456C=
NM_001369.3:c.6331C= MANE Select	NP_001360.1:p.Arg2111=