Canonical Allele Identifier: CA3791761

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.39026579G>T , CM000668.2:g.39026579G>T	GRCh38
NC_000006.11:g.38994355G>T , CM000668.1:g.38994355G>T	GRCh37
NC_000006.10:g.39102333G>T	NCBI36
NG_041805.1:g.316239G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.13748G>T MANE Select	NP_001193856.1:p.Arg4583Leu
ENST00000327475.11:c.13748G>T MANE Select	ENSP00000333363.7:p.Arg4583Leu
NM_001206927.1:c.13748G>T	NP_001193856.1:p.Arg4583Leu
NM_001371.3:c.13097G>T	NP_001362.2:p.Arg4366Leu
NM_001371.4:c.13097G>T	NP_001362.2:p.Arg4366Leu
ENST00000327475.10:c.13748G>T	ENSP00000333363.7:p.Arg4583Leu
ENST00000359357.7:c.13097G>T	ENSP00000352312.3:p.Arg4366Leu
XM_011514318.1:c.13685G>T	XP_011512620.1:p.Arg4562Leu
XM_011514318.2:c.13685G>T	XP_011512620.1:p.Arg4562Leu
XM_011514319.1:c.13640G>T	XP_011512621.1:p.Arg4547Leu
XM_011514319.2:c.13640G>T	XP_011512621.1:p.Arg4547Leu
XM_011514320.1:c.13511G>T	XP_011512622.1:p.Arg4504Leu
XM_011514320.2:c.13511G>T	XP_011512622.1:p.Arg4504Leu
XM_011514321.1:c.13097G>T	XP_011512623.1:p.Arg4366Leu
XR_926078.1:n.14185G>T
XR_926078.2:n.14188G>T