Canonical Allele Identifier: CA3791360

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38971636C>T , CM000668.2:g.38971636C>T	GRCh38
NC_000006.11:g.38939412C>T , CM000668.1:g.38939412C>T	GRCh37
NC_000006.10:g.39047390C>T	NCBI36
NG_041805.1:g.261296C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.12496C>T MANE Select	NP_001193856.1:p.Arg4166Ter
ENST00000327475.11:c.12496C>T MANE Select	ENSP00000333363.7:p.Arg4166Ter
NM_001206927.1:c.12496C>T	NP_001193856.1:p.Arg4166Ter
NM_001371.3:c.11845C>T	NP_001362.2:p.Arg3949Ter
NM_001371.4:c.11845C>T	NP_001362.2:p.Arg3949Ter
ENST00000327475.10:c.12496C>T	ENSP00000333363.7:p.Arg4166Ter
ENST00000359357.7:c.11845C>T	ENSP00000352312.3:p.Arg3949Ter
ENST00000449981.6:c.12496C>T	ENSP00000415331.2:p.Arg4166Ter
XM_011514318.1:c.12433C>T	XP_011512620.1:p.Arg4145Ter
XM_011514318.2:c.12433C>T	XP_011512620.1:p.Arg4145Ter
XM_011514319.1:c.12388C>T	XP_011512621.1:p.Arg4130Ter
XM_011514319.2:c.12388C>T	XP_011512621.1:p.Arg4130Ter
XM_011514320.1:c.12259C>T	XP_011512622.1:p.Arg4087Ter
XM_011514320.2:c.12259C>T	XP_011512622.1:p.Arg4087Ter
XM_011514321.1:c.11845C>T	XP_011512623.1:p.Arg3949Ter
XM_017010325.1:c.12496C>T	XP_016865814.1:p.Arg4166Ter
XR_926078.1:n.12613C>T
XR_926078.2:n.12616C>T