Canonical Allele Identifier: CA3788288

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38770443G>A , CM000668.2:g.38770443G>A	GRCh38
NC_000006.11:g.38738219G>A , CM000668.1:g.38738219G>A	GRCh37
NC_000006.10:g.38846197G>A	NCBI36
NG_041805.1:g.60103G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.1648G>A MANE Select	NP_001193856.1:p.Ala550Thr
ENST00000327475.11:c.1648G>A MANE Select	ENSP00000333363.7:p.Ala550Thr
NM_001206927.1:c.1648G>A	NP_001193856.1:p.Ala550Thr
NM_001371.3:c.997G>A	NP_001362.2:p.Ala333Thr
NM_001371.4:c.997G>A	NP_001362.2:p.Ala333Thr
ENST00000327475.10:c.1648G>A	ENSP00000333363.7:p.Ala550Thr
ENST00000359357.7:c.997G>A	ENSP00000352312.3:p.Ala333Thr
ENST00000449981.6:c.1648G>A	ENSP00000415331.2:p.Ala550Thr
XM_011514318.1:c.1648G>A	XP_011512620.1:p.Ala550Thr
XM_011514318.2:c.1648G>A	XP_011512620.1:p.Ala550Thr
XM_011514319.1:c.1648G>A	XP_011512621.1:p.Ala550Thr
XM_011514319.2:c.1648G>A	XP_011512621.1:p.Ala550Thr
XM_011514320.1:c.1411G>A	XP_011512622.1:p.Ala471Thr
XM_011514320.2:c.1411G>A	XP_011512622.1:p.Ala471Thr
XM_011514321.1:c.997G>A	XP_011512623.1:p.Ala333Thr
XM_011514322.1:c.1648G>A	XP_011512624.1:p.Ala550Thr
XM_017010325.1:c.1648G>A	XP_016865814.1:p.Ala550Thr
XM_017010326.1:c.1648G>A	XP_016865815.1:p.Ala550Thr
XM_017010327.1:c.1648G>A	XP_016865816.1:p.Ala550Thr
XR_001743188.1:n.1769G>A
XR_926078.1:n.1765G>A
XR_926078.2:n.1768G>A