Canonical Allele Identifier: CA1528430382

Gene: DNAH5

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.13769091T= , CM000667.2:g.13769091T=	GRCh38
NC_000005.9:g.13769200T= , CM000667.1:g.13769200T=	GRCh37
NC_000005.8:g.13822200T=	NCBI36
NG_013081.1:g.180390A=
NG_013081.2:g.180390A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000265104.5:c.9766A= MANE Select	ENSP00000265104.4:p.Lys3256=
ENST00000681290.1:c.9721A=	ENSP00000505288.1:p.Lys3241=
ENST00000265104.4:c.9766A=	ENSP00000265104.4:p.Lys3256=
ENST00000504001.3:n.478A=
NM_001369.2:c.9766A=	NP_001360.1:p.Lys3256=
XM_005248262.2:c.9721A=	XP_005248319.1:p.Lys3241=
XM_005248262.3:c.9874A=	XP_005248319.2:p.Lys3292=
XM_017009177.1:c.9874A=	XP_016864666.1:p.Lys3292=
XM_017009178.1:c.8779A=	XP_016864667.1:p.Lys2927=
XM_017009179.2:c.8779A=	XP_016864668.1:p.Lys2927=
XM_017009180.1:c.9874A=	XP_016864669.1:p.Lys3292=
XM_017009181.1:c.9874A=	XP_016864670.1:p.Lys3292=
XM_017009182.1:c.9874A=	XP_016864671.1:p.Lys3292=
XM_017009185.1:c.4963A=	XP_016864674.1:p.Lys1655=
XM_017009186.1:c.4516A=	XP_016864675.1:p.Lys1506=
XM_017009188.1:c.3853A=	XP_016864677.1:p.Lys1285=
XM_024454388.1:c.8779A=	XP_024310156.1:p.Lys2927=
XM_024454389.1:c.8368A=	XP_024310157.1:p.Lys2790=
NM_001369.3:c.9766A= MANE Select	NP_001360.1:p.Lys3256=