Canonical Allele Identifier: CA3790335

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38896194C>T , CM000668.2:g.38896194C>T	GRCh38
NC_000006.11:g.38863970C>T , CM000668.1:g.38863970C>T	GRCh37
NC_000006.10:g.38971948C>T	NCBI36
NG_041805.1:g.185854C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.8909C>T MANE Select	NP_001193856.1:p.Ser2970Phe
ENST00000327475.11:c.8909C>T MANE Select	ENSP00000333363.7:p.Ser2970Phe
NM_001206927.1:c.8909C>T	NP_001193856.1:p.Ser2970Phe
NM_001371.3:c.8258C>T	NP_001362.2:p.Ser2753Phe
NM_001371.4:c.8258C>T	NP_001362.2:p.Ser2753Phe
ENST00000327475.10:c.8909C>T	ENSP00000333363.7:p.Ser2970Phe
ENST00000359357.7:c.8258C>T	ENSP00000352312.3:p.Ser2753Phe
ENST00000449981.6:c.8909C>T	ENSP00000415331.2:p.Ser2970Phe
XM_011514318.1:c.8846C>T	XP_011512620.1:p.Ser2949Phe
XM_011514318.2:c.8846C>T	XP_011512620.1:p.Ser2949Phe
XM_011514319.1:c.8801C>T	XP_011512621.1:p.Ser2934Phe
XM_011514319.2:c.8801C>T	XP_011512621.1:p.Ser2934Phe
XM_011514320.1:c.8672C>T	XP_011512622.1:p.Ser2891Phe
XM_011514320.2:c.8672C>T	XP_011512622.1:p.Ser2891Phe
XM_011514321.1:c.8258C>T	XP_011512623.1:p.Ser2753Phe
XM_017010325.1:c.8909C>T	XP_016865814.1:p.Ser2970Phe
XM_017010326.1:c.8909C>T	XP_016865815.1:p.Ser2970Phe
XR_926078.1:n.9026C>T
XR_926078.2:n.9029C>T