Canonical Allele Identifier: CA3789898

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38873014G>T , CM000668.2:g.38873014G>T	GRCh38
NC_000006.11:g.38840790G>T , CM000668.1:g.38840790G>T	GRCh37
NC_000006.10:g.38948768G>T	NCBI36
NG_041805.1:g.162674G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.7346G>T MANE Select	NP_001193856.1:p.Arg2449Leu
ENST00000327475.11:c.7346G>T MANE Select	ENSP00000333363.7:p.Arg2449Leu
NM_001206927.1:c.7346G>T	NP_001193856.1:p.Arg2449Leu
NM_001371.3:c.6695G>T	NP_001362.2:p.Arg2232Leu
NM_001371.4:c.6695G>T	NP_001362.2:p.Arg2232Leu
ENST00000327475.10:c.7346G>T	ENSP00000333363.7:p.Arg2449Leu
ENST00000359357.7:c.6695G>T	ENSP00000352312.3:p.Arg2232Leu
ENST00000449981.6:c.7346G>T	ENSP00000415331.2:p.Arg2449Leu
XM_011514318.1:c.7283G>T	XP_011512620.1:p.Arg2428Leu
XM_011514318.2:c.7283G>T	XP_011512620.1:p.Arg2428Leu
XM_011514319.1:c.7238G>T	XP_011512621.1:p.Arg2413Leu
XM_011514319.2:c.7238G>T	XP_011512621.1:p.Arg2413Leu
XM_011514320.1:c.7109G>T	XP_011512622.1:p.Arg2370Leu
XM_011514320.2:c.7109G>T	XP_011512622.1:p.Arg2370Leu
XM_011514321.1:c.6695G>T	XP_011512623.1:p.Arg2232Leu
XM_011514322.1:c.7346G>T	XP_011512624.1:p.Arg2449Leu
XM_017010325.1:c.7346G>T	XP_016865814.1:p.Arg2449Leu
XM_017010326.1:c.7346G>T	XP_016865815.1:p.Arg2449Leu
XM_017010327.1:c.7346G>T	XP_016865816.1:p.Arg2449Leu
XR_001743188.1:n.7467G>T
XR_926078.1:n.7463G>T
XR_926078.2:n.7466G>T