Canonical Allele Identifier: CA363991836

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38883428C>A , CM000668.2:g.38883428C>A	GRCh38
NC_000006.11:g.38851204C>A , CM000668.1:g.38851204C>A	GRCh37
NC_000006.10:g.38959182C>A	NCBI36
NG_041805.1:g.173088C>A

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.8108C>A MANE Select	NP_001193856.1:p.Ser2703Ter
ENST00000327475.11:c.8108C>A MANE Select	ENSP00000333363.7:p.Ser2703Ter
NM_001206927.1:c.8108C>A	NP_001193856.1:p.Ser2703Ter
NM_001371.3:c.7457C>A	NP_001362.2:p.Ser2486Ter
NM_001371.4:c.7457C>A	NP_001362.2:p.Ser2486Ter
ENST00000327475.10:c.8108C>A	ENSP00000333363.7:p.Ser2703Ter
ENST00000359357.7:c.7457C>A	ENSP00000352312.3:p.Ser2486Ter
ENST00000449981.6:c.8108C>A	ENSP00000415331.2:p.Ser2703Ter
XM_011514318.1:c.8045C>A	XP_011512620.1:p.Ser2682Ter
XM_011514318.2:c.8045C>A	XP_011512620.1:p.Ser2682Ter
XM_011514319.1:c.8000C>A	XP_011512621.1:p.Ser2667Ter
XM_011514319.2:c.8000C>A	XP_011512621.1:p.Ser2667Ter
XM_011514320.1:c.7871C>A	XP_011512622.1:p.Ser2624Ter
XM_011514320.2:c.7871C>A	XP_011512622.1:p.Ser2624Ter
XM_011514321.1:c.7457C>A	XP_011512623.1:p.Ser2486Ter
XM_017010325.1:c.8108C>A	XP_016865814.1:p.Ser2703Ter
XM_017010326.1:c.8108C>A	XP_016865815.1:p.Ser2703Ter
XM_017010327.1:c.8108C>A	XP_016865816.1:p.Ser2703Ter
XR_001743188.1:n.7991C>A
XR_926078.1:n.8225C>A
XR_926078.2:n.8228C>A