Canonical Allele Identifier: CA1528408675

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13721014G= , CM000667.2:g.13721014G=	GRCh38
NC_000005.9:g.13721123G= , CM000667.1:g.13721123G=	GRCh37
NC_000005.8:g.13774123G=	NCBI36
NG_013081.1:g.228467C=
NG_013081.2:g.228467C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001369.3:c.12265C= MANE Select	NP_001360.1:p.Gln4089=
ENST00000265104.5:c.12265C= MANE Select	ENSP00000265104.4:p.Gln4089=
NM_001369.2:c.12265C=	NP_001360.1:p.Gln4089=
ENST00000265104.4:c.12265C=	ENSP00000265104.4:p.Gln4089=
ENST00000681290.1:c.12220C=	ENSP00000505288.1:p.Gln4074=
XM_005248262.2:c.12220C=	XP_005248319.1:p.Gln4074=
XM_005248262.3:c.12373C=	XP_005248319.2:p.Gln4125=
XM_017009177.1:c.12373C=	XP_016864666.1:p.Gln4125=
XM_017009178.1:c.11278C=	XP_016864667.1:p.Gln3760=
XM_017009179.2:c.11278C=	XP_016864668.1:p.Gln3760=
XM_017009180.1:c.12373C=	XP_016864669.1:p.Gln4125=
XM_017009185.1:c.7462C=	XP_016864674.1:p.Gln2488=
XM_017009186.1:c.7015C=	XP_016864675.1:p.Gln2339=
XM_017009188.1:c.6352C=	XP_016864677.1:p.Gln2118=
XM_024454388.1:c.11278C=	XP_024310156.1:p.Gln3760=
XM_024454389.1:c.10867C=	XP_024310157.1:p.Gln3623=