Canonical Allele Identifier: CA364008206

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38982450C>A , CM000668.2:g.38982450C>A	GRCh38
NC_000006.11:g.38950226C>A , CM000668.1:g.38950226C>A	GRCh37
NC_000006.10:g.39058204C>A	NCBI36
NG_041805.1:g.272110C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.12939C>A MANE Select	NP_001193856.1:p.Cys4313Ter
ENST00000327475.11:c.12939C>A MANE Select	ENSP00000333363.7:p.Cys4313Ter
NM_001206927.1:c.12939C>A	NP_001193856.1:p.Cys4313Ter
NM_001371.3:c.12288C>A	NP_001362.2:p.Cys4096Ter
NM_001371.4:c.12288C>A	NP_001362.2:p.Cys4096Ter
ENST00000327475.10:c.12939C>A	ENSP00000333363.7:p.Cys4313Ter
ENST00000359357.7:c.12288C>A	ENSP00000352312.3:p.Cys4096Ter
XM_011514318.1:c.12876C>A	XP_011512620.1:p.Cys4292Ter
XM_011514318.2:c.12876C>A	XP_011512620.1:p.Cys4292Ter
XM_011514319.1:c.12831C>A	XP_011512621.1:p.Cys4277Ter
XM_011514319.2:c.12831C>A	XP_011512621.1:p.Cys4277Ter
XM_011514320.1:c.12702C>A	XP_011512622.1:p.Cys4234Ter
XM_011514320.2:c.12702C>A	XP_011512622.1:p.Cys4234Ter
XM_011514321.1:c.12288C>A	XP_011512623.1:p.Cys4096Ter
XM_017010325.1:c.12939C>A	XP_016865814.1:p.Cys4313Ter
XR_926078.1:n.13056C>A
XR_926078.2:n.13059C>A