Canonical Allele Identifier: CA364003063

Gene: DNAH8

Linked Data

• gnomAD v4: 6-38842483-G-A
• MyVariant Identifiers: chr6:g.38810259G>A (hg19) ; chr6:g.38842483G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38842483G>A , CM000668.2:g.38842483G>A	GRCh38
NC_000006.11:g.38810259G>A , CM000668.1:g.38810259G>A	GRCh37
NC_000006.10:g.38918237G>A	NCBI36
NG_041805.1:g.132143G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327475.11:c.4582G>A MANE Select	ENSP00000333363.7:p.Glu1528Lys
ENST00000327475.10:c.4582G>A	ENSP00000333363.7:p.Glu1528Lys
ENST00000359357.7:c.3931G>A	ENSP00000352312.3:p.Glu1311Lys
ENST00000449981.6:c.4582G>A	ENSP00000415331.2:p.Glu1528Lys
NM_001206927.1:c.4582G>A	NP_001193856.1:p.Glu1528Lys
XM_011514318.1:c.4519G>A	XP_011512620.1:p.Glu1507Lys
XM_011514319.1:c.4582G>A	XP_011512621.1:p.Glu1528Lys
XM_011514320.1:c.4345G>A	XP_011512622.1:p.Glu1449Lys
XM_011514321.1:c.3931G>A	XP_011512623.1:p.Glu1311Lys
XM_011514322.1:c.4582G>A	XP_011512624.1:p.Glu1528Lys
XR_926078.1:n.4699G>A
NM_001371.3:c.3931G>A	NP_001362.2:p.Glu1311Lys
XM_011514318.2:c.4519G>A	XP_011512620.1:p.Glu1507Lys
XM_011514319.2:c.4582G>A	XP_011512621.1:p.Glu1528Lys
XM_011514320.2:c.4345G>A	XP_011512622.1:p.Glu1449Lys
XM_017010325.1:c.4582G>A	XP_016865814.1:p.Glu1528Lys
XM_017010326.1:c.4582G>A	XP_016865815.1:p.Glu1528Lys
XM_017010327.1:c.4582G>A	XP_016865816.1:p.Glu1528Lys
XR_001743188.1:n.4703G>A
XR_926078.2:n.4702G>A
NM_001206927.2:c.4582G>A MANE Select	NP_001193856.1:p.Glu1528Lys
NM_001371.4:c.3931G>A	NP_001362.2:p.Glu1311Lys