Canonical Allele Identifier: CA364024817

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38866872A>G , CM000668.2:g.38866872A>G	GRCh38
NC_000006.11:g.38834648A>G , CM000668.1:g.38834648A>G	GRCh37
NC_000006.10:g.38942626A>G	NCBI36
NG_041805.1:g.156532A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.6689A>G MANE Select	NP_001193856.1:p.Lys2230Arg
ENST00000327475.11:c.6689A>G MANE Select	ENSP00000333363.7:p.Lys2230Arg
NM_001206927.1:c.6689A>G	NP_001193856.1:p.Lys2230Arg
NM_001371.3:c.6038A>G	NP_001362.2:p.Lys2013Arg
NM_001371.4:c.6038A>G	NP_001362.2:p.Lys2013Arg
ENST00000327475.10:c.6689A>G	ENSP00000333363.7:p.Lys2230Arg
ENST00000359357.7:c.6038A>G	ENSP00000352312.3:p.Lys2013Arg
ENST00000394393.3:c.179+195A>G
ENST00000449981.6:c.6689A>G	ENSP00000415331.2:p.Lys2230Arg
XM_011514318.1:c.6626A>G	XP_011512620.1:p.Lys2209Arg
XM_011514318.2:c.6626A>G	XP_011512620.1:p.Lys2209Arg
XM_011514319.1:c.6585+195A>G	XP_011512621.1:n.6585+195A>G
XM_011514319.2:c.6585+195A>G	XP_011512621.1:n.6585+195A>G
XM_011514320.1:c.6452A>G	XP_011512622.1:p.Lys2151Arg
XM_011514320.2:c.6452A>G	XP_011512622.1:p.Lys2151Arg
XM_011514321.1:c.6038A>G	XP_011512623.1:p.Lys2013Arg
XM_011514322.1:c.6689A>G	XP_011512624.1:p.Lys2230Arg
XM_017010325.1:c.6689A>G	XP_016865814.1:p.Lys2230Arg
XM_017010326.1:c.6689A>G	XP_016865815.1:p.Lys2230Arg
XM_017010327.1:c.6689A>G	XP_016865816.1:p.Lys2230Arg
XR_001743188.1:n.6810A>G
XR_926078.1:n.6806A>G
XR_926078.2:n.6809A>G