Canonical Allele Identifier: CA3791450

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38974416G>A , CM000668.2:g.38974416G>A	GRCh38
NC_000006.11:g.38942192G>A , CM000668.1:g.38942192G>A	GRCh37
NC_000006.10:g.39050170G>A	NCBI36
NG_041805.1:g.264076G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.12721G>A MANE Select	NP_001193856.1:p.Ala4241Thr
ENST00000327475.11:c.12721G>A MANE Select	ENSP00000333363.7:p.Ala4241Thr
NM_001206927.1:c.12721G>A	NP_001193856.1:p.Ala4241Thr
NM_001371.3:c.12070G>A	NP_001362.2:p.Ala4024Thr
NM_001371.4:c.12070G>A	NP_001362.2:p.Ala4024Thr
ENST00000327475.10:c.12721G>A	ENSP00000333363.7:p.Ala4241Thr
ENST00000359357.7:c.12070G>A	ENSP00000352312.3:p.Ala4024Thr
XM_011514318.1:c.12658G>A	XP_011512620.1:p.Ala4220Thr
XM_011514318.2:c.12658G>A	XP_011512620.1:p.Ala4220Thr
XM_011514319.1:c.12613G>A	XP_011512621.1:p.Ala4205Thr
XM_011514319.2:c.12613G>A	XP_011512621.1:p.Ala4205Thr
XM_011514320.1:c.12484G>A	XP_011512622.1:p.Ala4162Thr
XM_011514320.2:c.12484G>A	XP_011512622.1:p.Ala4162Thr
XM_011514321.1:c.12070G>A	XP_011512623.1:p.Ala4024Thr
XM_017010325.1:c.12721G>A	XP_016865814.1:p.Ala4241Thr
XR_926078.1:n.12838G>A
XR_926078.2:n.12841G>A