Canonical Allele Identifier: CA364001472

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38906363G>T , CM000668.2:g.38906363G>T	GRCh38
NC_000006.11:g.38874139G>T , CM000668.1:g.38874139G>T	GRCh37
NC_000006.10:g.38982117G>T	NCBI36
NG_041805.1:g.196023G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.9304G>T MANE Select	NP_001193856.1:p.Glu3102Ter
ENST00000327475.11:c.9304G>T MANE Select	ENSP00000333363.7:p.Glu3102Ter
NM_001206927.1:c.9304G>T	NP_001193856.1:p.Glu3102Ter
NM_001371.3:c.8653G>T	NP_001362.2:p.Glu2885Ter
NM_001371.4:c.8653G>T	NP_001362.2:p.Glu2885Ter
ENST00000327475.10:c.9304G>T	ENSP00000333363.7:p.Glu3102Ter
ENST00000359357.7:c.8653G>T	ENSP00000352312.3:p.Glu2885Ter
ENST00000449981.6:c.9304G>T	ENSP00000415331.2:p.Glu3102Ter
XM_011514318.1:c.9241G>T	XP_011512620.1:p.Glu3081Ter
XM_011514318.2:c.9241G>T	XP_011512620.1:p.Glu3081Ter
XM_011514319.1:c.9196G>T	XP_011512621.1:p.Glu3066Ter
XM_011514319.2:c.9196G>T	XP_011512621.1:p.Glu3066Ter
XM_011514320.1:c.9067G>T	XP_011512622.1:p.Glu3023Ter
XM_011514320.2:c.9067G>T	XP_011512622.1:p.Glu3023Ter
XM_011514321.1:c.8653G>T	XP_011512623.1:p.Glu2885Ter
XM_017010325.1:c.9304G>T	XP_016865814.1:p.Glu3102Ter
XM_017010326.1:c.9304G>T	XP_016865815.1:p.Glu3102Ter
XR_926078.1:n.9421G>T
XR_926078.2:n.9424G>T