Canonical Allele Identifier: CA363985009

Gene: DNAH8

Linked Data

• MyVariant Identifiers: chr6:g.38690969G>T (hg19) ; chr6:g.38723193G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38723193G>T , CM000668.2:g.38723193G>T	GRCh38
NC_000006.11:g.38690969G>T , CM000668.1:g.38690969G>T	GRCh37
NC_000006.10:g.38798947G>T	NCBI36
NG_041805.1:g.12853G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327475.11:c.384G>T MANE Select	ENSP00000333363.7:p.Glu128Asp
ENST00000327475.10:c.384G>T	ENSP00000333363.7:p.Glu128Asp
ENST00000359357.7:c.-183G>T	ENSP00000352312.3:n.-183G>T
ENST00000373278.8:c.384G>T	ENSP00000362375.4:p.Glu128Asp
ENST00000449981.6:c.384G>T	ENSP00000415331.2:p.Glu128Asp
NM_001206927.1:c.384G>T	NP_001193856.1:p.Glu128Asp
XM_011514318.1:c.384G>T	XP_011512620.1:p.Glu128Asp
XM_011514319.1:c.384G>T	XP_011512621.1:p.Glu128Asp
XM_011514320.1:c.384G>T	XP_011512622.1:p.Glu128Asp
XM_011514322.1:c.384G>T	XP_011512624.1:p.Glu128Asp
XR_926078.1:n.501G>T
NM_001371.3:c.-183G>T	NP_001362.2:n.-183G>T
XM_011514318.2:c.384G>T	XP_011512620.1:p.Glu128Asp
XM_011514319.2:c.384G>T	XP_011512621.1:p.Glu128Asp
XM_011514320.2:c.384G>T	XP_011512622.1:p.Glu128Asp
XM_017010325.1:c.384G>T	XP_016865814.1:p.Glu128Asp
XM_017010326.1:c.384G>T	XP_016865815.1:p.Glu128Asp
XM_017010327.1:c.384G>T	XP_016865816.1:p.Glu128Asp
XR_001743188.1:n.505G>T
XR_926078.2:n.504G>T
NM_001206927.2:c.384G>T MANE Select	NP_001193856.1:p.Glu128Asp
NM_001371.4:c.-183G>T	NP_001362.2:n.-183G>T