Canonical Allele Identifier: CA3788054

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38737136A>G , CM000668.2:g.38737136A>G	GRCh38
NC_000006.11:g.38704912A>G , CM000668.1:g.38704912A>G	GRCh37
NC_000006.10:g.38812890A>G	NCBI36
NG_041805.1:g.26796A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.832A>G MANE Select	NP_001193856.1:p.Ile278Val
ENST00000327475.11:c.832A>G MANE Select	ENSP00000333363.7:p.Ile278Val
NM_001206927.1:c.832A>G	NP_001193856.1:p.Ile278Val
NM_001371.3:c.181A>G	NP_001362.2:p.Ile61Val
NM_001371.4:c.181A>G	NP_001362.2:p.Ile61Val
ENST00000327475.10:c.832A>G	ENSP00000333363.7:p.Ile278Val
ENST00000359357.7:c.181A>G	ENSP00000352312.3:p.Ile61Val
ENST00000449981.6:c.832A>G	ENSP00000415331.2:p.Ile278Val
XM_011514318.1:c.832A>G	XP_011512620.1:p.Ile278Val
XM_011514318.2:c.832A>G	XP_011512620.1:p.Ile278Val
XM_011514319.1:c.832A>G	XP_011512621.1:p.Ile278Val
XM_011514319.2:c.832A>G	XP_011512621.1:p.Ile278Val
XM_011514320.1:c.595A>G	XP_011512622.1:p.Ile199Val
XM_011514320.2:c.595A>G	XP_011512622.1:p.Ile199Val
XM_011514321.1:c.181A>G	XP_011512623.1:p.Ile61Val
XM_011514322.1:c.832A>G	XP_011512624.1:p.Ile278Val
XM_017010325.1:c.832A>G	XP_016865814.1:p.Ile278Val
XM_017010326.1:c.832A>G	XP_016865815.1:p.Ile278Val
XM_017010327.1:c.832A>G	XP_016865816.1:p.Ile278Val
XR_001743188.1:n.953A>G
XR_926078.1:n.949A>G
XR_926078.2:n.952A>G