Canonical Allele Identifier: CA3789206

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38842858A>T , CM000668.2:g.38842858A>T	GRCh38
NC_000006.11:g.38810634A>T , CM000668.1:g.38810634A>T	GRCh37
NC_000006.10:g.38918612A>T	NCBI36
NG_041805.1:g.132518A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.4800A>T MANE Select	NP_001193856.1:p.Arg1600Ser
ENST00000327475.11:c.4800A>T MANE Select	ENSP00000333363.7:p.Arg1600Ser
NM_001206927.1:c.4800A>T	NP_001193856.1:p.Arg1600Ser
NM_001371.3:c.4149A>T	NP_001362.2:p.Arg1383Ser
NM_001371.4:c.4149A>T	NP_001362.2:p.Arg1383Ser
ENST00000327475.10:c.4800A>T	ENSP00000333363.7:p.Arg1600Ser
ENST00000359357.7:c.4149A>T	ENSP00000352312.3:p.Arg1383Ser
ENST00000449981.6:c.4800A>T	ENSP00000415331.2:p.Arg1600Ser
XM_011514318.1:c.4737A>T	XP_011512620.1:p.Arg1579Ser
XM_011514318.2:c.4737A>T	XP_011512620.1:p.Arg1579Ser
XM_011514319.1:c.4800A>T	XP_011512621.1:p.Arg1600Ser
XM_011514319.2:c.4800A>T	XP_011512621.1:p.Arg1600Ser
XM_011514320.1:c.4563A>T	XP_011512622.1:p.Arg1521Ser
XM_011514320.2:c.4563A>T	XP_011512622.1:p.Arg1521Ser
XM_011514321.1:c.4149A>T	XP_011512623.1:p.Arg1383Ser
XM_011514322.1:c.4800A>T	XP_011512624.1:p.Arg1600Ser
XM_017010325.1:c.4800A>T	XP_016865814.1:p.Arg1600Ser
XM_017010326.1:c.4800A>T	XP_016865815.1:p.Arg1600Ser
XM_017010327.1:c.4800A>T	XP_016865816.1:p.Arg1600Ser
XR_001743188.1:n.4921A>T
XR_926078.1:n.4917A>T
XR_926078.2:n.4920A>T