Canonical Allele Identifier: CA1528403750

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13708176G= , CM000667.2:g.13708176G=	GRCh38
NC_000005.9:g.13708285G= , CM000667.1:g.13708285G=	GRCh37
NC_000005.8:g.13761285G=	NCBI36
NG_013081.1:g.241305C=
NG_013081.2:g.241305C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.618C=
ENST00000265104.5:c.13285C= MANE Select	ENSP00000265104.4:p.Arg4429=
ENST00000681290.1:c.13240C=	ENSP00000505288.1:p.Arg4414=
ENST00000265104.4:c.13285C=	ENSP00000265104.4:p.Arg4429=
NM_001369.2:c.13285C=	NP_001360.1:p.Arg4429=
XM_005248262.2:c.13240C=	XP_005248319.1:p.Arg4414=
XM_005248262.3:c.13393C=	XP_005248319.2:p.Arg4465=
XM_017009177.1:c.12973C=	XP_016864666.1:p.Arg4325=
XM_017009178.1:c.12298C=	XP_016864667.1:p.Arg4100=
XM_017009179.2:c.12298C=	XP_016864668.1:p.Arg4100=
XM_017009185.1:c.8482C=	XP_016864674.1:p.Arg2828=
XM_017009186.1:c.8035C=	XP_016864675.1:p.Arg2679=
XM_017009188.1:c.7372C=	XP_016864677.1:p.Arg2458=
XM_024454388.1:c.12298C=	XP_024310156.1:p.Arg4100=
XM_024454389.1:c.11887C=	XP_024310157.1:p.Arg3963=
NM_001369.3:c.13285C= MANE Select	NP_001360.1:p.Arg4429=