Canonical Allele Identifier: CA364026115

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38870432T>G , CM000668.2:g.38870432T>G	GRCh38
NC_000006.11:g.38838208T>G , CM000668.1:g.38838208T>G	GRCh37
NC_000006.10:g.38946186T>G	NCBI36
NG_041805.1:g.160092T>G

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.6860T>G MANE Select	NP_001193856.1:p.Leu2287Ter
ENST00000327475.11:c.6860T>G MANE Select	ENSP00000333363.7:p.Leu2287Ter
NM_001206927.1:c.6860T>G	NP_001193856.1:p.Leu2287Ter
NM_001371.3:c.6209T>G	NP_001362.2:p.Leu2070Ter
NM_001371.4:c.6209T>G	NP_001362.2:p.Leu2070Ter
ENST00000327475.10:c.6860T>G	ENSP00000333363.7:p.Leu2287Ter
ENST00000359357.7:c.6209T>G	ENSP00000352312.3:p.Leu2070Ter
ENST00000394393.3:c.346T>G
ENST00000449981.6:c.6860T>G	ENSP00000415331.2:p.Leu2287Ter
XM_011514318.1:c.6797T>G	XP_011512620.1:p.Leu2266Ter
XM_011514318.2:c.6797T>G	XP_011512620.1:p.Leu2266Ter
XM_011514319.1:c.6752T>G	XP_011512621.1:p.Leu2251Ter
XM_011514319.2:c.6752T>G	XP_011512621.1:p.Leu2251Ter
XM_011514320.1:c.6623T>G	XP_011512622.1:p.Leu2208Ter
XM_011514320.2:c.6623T>G	XP_011512622.1:p.Leu2208Ter
XM_011514321.1:c.6209T>G	XP_011512623.1:p.Leu2070Ter
XM_011514322.1:c.6860T>G	XP_011512624.1:p.Leu2287Ter
XM_017010325.1:c.6860T>G	XP_016865814.1:p.Leu2287Ter
XM_017010326.1:c.6860T>G	XP_016865815.1:p.Leu2287Ter
XM_017010327.1:c.6860T>G	XP_016865816.1:p.Leu2287Ter
XR_001743188.1:n.6981T>G
XR_926078.1:n.6977T>G
XR_926078.2:n.6980T>G