Canonical Allele Identifier: CA3790942

Gene: DNAH8 DNAH8-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38929549G>A , CM000668.2:g.38929549G>A	GRCh38
NC_000006.11:g.38897325G>A , CM000668.1:g.38897325G>A	GRCh37
NC_000006.10:g.39005303G>A	NCBI36
NG_041805.1:g.219209G>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.11157G>A (DNAH8) MANE Select	NP_001193856.1:p.Leu3719=
ENST00000327475.11:c.11157G>A (DNAH8) MANE Select	ENSP00000333363.7:p.Leu3719=
NM_001206927.1:c.11157G>A (DNAH8)	NP_001193856.1:p.Leu3719=
NM_001371.3:c.10506G>A (DNAH8)	NP_001362.2:p.Leu3502=
NM_001371.4:c.10506G>A (DNAH8)	NP_001362.2:p.Leu3502=
NR_038401.1:n.161-4498C>T (DNAH8-AS1)
ENST00000327475.10:c.11157G>A (DNAH8)	ENSP00000333363.7:p.Leu3719=
ENST00000359357.7:c.10506G>A (DNAH8)	ENSP00000352312.3:p.Leu3502=
ENST00000449981.6:c.11157G>A (DNAH8)	ENSP00000415331.2:p.Leu3719=
XM_011514318.1:c.11094G>A (DNAH8)	XP_011512620.1:p.Leu3698=
XM_011514318.2:c.11094G>A (DNAH8)	XP_011512620.1:p.Leu3698=
XM_011514319.1:c.11049G>A (DNAH8)	XP_011512621.1:p.Leu3683=
XM_011514319.2:c.11049G>A (DNAH8)	XP_011512621.1:p.Leu3683=
XM_011514320.1:c.10920G>A (DNAH8)	XP_011512622.1:p.Leu3640=
XM_011514320.2:c.10920G>A (DNAH8)	XP_011512622.1:p.Leu3640=
XM_011514321.1:c.10506G>A (DNAH8)	XP_011512623.1:p.Leu3502=
XM_017010325.1:c.11157G>A (DNAH8)	XP_016865814.1:p.Leu3719=
XM_017010326.1:c.11157G>A (DNAH8)	XP_016865815.1:p.Leu3719=
XR_926078.1:n.11274G>A (DNAH8)
XR_926078.2:n.11277G>A (DNAH8)