Canonical Allele Identifier: CA363992842

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38823628G>T , CM000668.2:g.38823628G>T	GRCh38
NC_000006.11:g.38791404G>T , CM000668.1:g.38791404G>T	GRCh37
NC_000006.10:g.38899382G>T	NCBI36
NG_041805.1:g.113288G>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.3787G>T MANE Select	NP_001193856.1:p.Glu1263Ter
ENST00000327475.11:c.3787G>T MANE Select	ENSP00000333363.7:p.Glu1263Ter
NM_001206927.1:c.3787G>T	NP_001193856.1:p.Glu1263Ter
NM_001371.3:c.3136G>T	NP_001362.2:p.Glu1046Ter
NM_001371.4:c.3136G>T	NP_001362.2:p.Glu1046Ter
ENST00000327475.10:c.3787G>T	ENSP00000333363.7:p.Glu1263Ter
ENST00000359357.7:c.3136G>T	ENSP00000352312.3:p.Glu1046Ter
ENST00000449981.6:c.3787G>T	ENSP00000415331.2:p.Glu1263Ter
XM_011514318.1:c.3787G>T	XP_011512620.1:p.Glu1263Ter
XM_011514318.2:c.3787G>T	XP_011512620.1:p.Glu1263Ter
XM_011514319.1:c.3787G>T	XP_011512621.1:p.Glu1263Ter
XM_011514319.2:c.3787G>T	XP_011512621.1:p.Glu1263Ter
XM_011514320.1:c.3550G>T	XP_011512622.1:p.Glu1184Ter
XM_011514320.2:c.3550G>T	XP_011512622.1:p.Glu1184Ter
XM_011514321.1:c.3136G>T	XP_011512623.1:p.Glu1046Ter
XM_011514322.1:c.3787G>T	XP_011512624.1:p.Glu1263Ter
XM_017010325.1:c.3787G>T	XP_016865814.1:p.Glu1263Ter
XM_017010326.1:c.3787G>T	XP_016865815.1:p.Glu1263Ter
XM_017010327.1:c.3787G>T	XP_016865816.1:p.Glu1263Ter
XR_001743188.1:n.3908G>T
XR_926078.1:n.3904G>T
XR_926078.2:n.3907G>T