Canonical Allele Identifier: CA3790388

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38899782C>T , CM000668.2:g.38899782C>T	GRCh38
NC_000006.11:g.38867558C>T , CM000668.1:g.38867558C>T	GRCh37
NC_000006.10:g.38975536C>T	NCBI36
NG_041805.1:g.189442C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.9070C>T MANE Select	NP_001193856.1:p.Arg3024Ter
ENST00000327475.11:c.9070C>T MANE Select	ENSP00000333363.7:p.Arg3024Ter
NM_001206927.1:c.9070C>T	NP_001193856.1:p.Arg3024Ter
NM_001371.3:c.8419C>T	NP_001362.2:p.Arg2807Ter
NM_001371.4:c.8419C>T	NP_001362.2:p.Arg2807Ter
ENST00000327475.10:c.9070C>T	ENSP00000333363.7:p.Arg3024Ter
ENST00000359357.7:c.8419C>T	ENSP00000352312.3:p.Arg2807Ter
ENST00000449981.6:c.9070C>T	ENSP00000415331.2:p.Arg3024Ter
XM_011514318.1:c.9007C>T	XP_011512620.1:p.Arg3003Ter
XM_011514318.2:c.9007C>T	XP_011512620.1:p.Arg3003Ter
XM_011514319.1:c.8962C>T	XP_011512621.1:p.Arg2988Ter
XM_011514319.2:c.8962C>T	XP_011512621.1:p.Arg2988Ter
XM_011514320.1:c.8833C>T	XP_011512622.1:p.Arg2945Ter
XM_011514320.2:c.8833C>T	XP_011512622.1:p.Arg2945Ter
XM_011514321.1:c.8419C>T	XP_011512623.1:p.Arg2807Ter
XM_017010325.1:c.9070C>T	XP_016865814.1:p.Arg3024Ter
XM_017010326.1:c.9070C>T	XP_016865815.1:p.Arg3024Ter
XR_926078.1:n.9187C>T
XR_926078.2:n.9190C>T