Canonical Allele Identifier: CA3790155

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38886809C>T , CM000668.2:g.38886809C>T	GRCh38
NC_000006.11:g.38854585C>T , CM000668.1:g.38854585C>T	GRCh37
NC_000006.10:g.38962563C>T	NCBI36
NG_041805.1:g.176469C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.8278C>T MANE Select	NP_001193856.1:p.Arg2760Ter
ENST00000327475.11:c.8278C>T MANE Select	ENSP00000333363.7:p.Arg2760Ter
NM_001206927.1:c.8278C>T	NP_001193856.1:p.Arg2760Ter
NM_001371.3:c.7627C>T	NP_001362.2:p.Arg2543Ter
NM_001371.4:c.7627C>T	NP_001362.2:p.Arg2543Ter
ENST00000327475.10:c.8278C>T	ENSP00000333363.7:p.Arg2760Ter
ENST00000359357.7:c.7627C>T	ENSP00000352312.3:p.Arg2543Ter
ENST00000449981.6:c.8278C>T	ENSP00000415331.2:p.Arg2760Ter
XM_011514318.1:c.8215C>T	XP_011512620.1:p.Arg2739Ter
XM_011514318.2:c.8215C>T	XP_011512620.1:p.Arg2739Ter
XM_011514319.1:c.8170C>T	XP_011512621.1:p.Arg2724Ter
XM_011514319.2:c.8170C>T	XP_011512621.1:p.Arg2724Ter
XM_011514320.1:c.8041C>T	XP_011512622.1:p.Arg2681Ter
XM_011514320.2:c.8041C>T	XP_011512622.1:p.Arg2681Ter
XM_011514321.1:c.7627C>T	XP_011512623.1:p.Arg2543Ter
XM_017010325.1:c.8278C>T	XP_016865814.1:p.Arg2760Ter
XM_017010326.1:c.8278C>T	XP_016865815.1:p.Arg2760Ter
XM_017010327.1:c.8278C>T	XP_016865816.1:p.Arg2760Ter
XR_001743188.1:n.8161C>T
XR_926078.1:n.8395C>T
XR_926078.2:n.8398C>T