Canonical Allele Identifier: CA1528395896

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13692132A= , CM000667.2:g.13692132A=	GRCh38
NC_000005.9:g.13692241A= , CM000667.1:g.13692241A=	GRCh37
NC_000005.8:g.13745241A=	NCBI36
NG_013081.1:g.257349T=
NG_013081.2:g.257349T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683611.1:n.1060T=
ENST00000265104.5:c.13727T= MANE Select	ENSP00000265104.4:p.Leu4576=
ENST00000681290.1:c.13682T=	ENSP00000505288.1:p.Leu4561=
ENST00000265104.4:c.13727T=	ENSP00000265104.4:p.Leu4576=
NM_001369.2:c.13727T=	NP_001360.1:p.Leu4576=
XM_005248262.2:c.13682T=	XP_005248319.1:p.Leu4561=
XM_005248262.3:c.13835T=	XP_005248319.2:p.Leu4612=
XM_017009177.1:c.13415T=	XP_016864666.1:p.Leu4472=
XM_017009178.1:c.12740T=	XP_016864667.1:p.Leu4247=
XM_017009179.2:c.12740T=	XP_016864668.1:p.Leu4247=
XM_017009185.1:c.8924T=	XP_016864674.1:p.Leu2975=
XM_017009186.1:c.8477T=	XP_016864675.1:p.Leu2826=
XM_017009188.1:c.7814T=	XP_016864677.1:p.Leu2605=
XM_024454388.1:c.12740T=	XP_024310156.1:p.Leu4247=
XM_024454389.1:c.12329T=	XP_024310157.1:p.Leu4110=
NM_001369.3:c.13727T= MANE Select	NP_001360.1:p.Leu4576=