Canonical Allele Identifier: CA363991506

Gene: DNAH8

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.38883047C>T , CM000668.2:g.38883047C>T	GRCh38
NC_000006.11:g.38850823C>T , CM000668.1:g.38850823C>T	GRCh37
NC_000006.10:g.38958801C>T	NCBI36
NG_041805.1:g.172707C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001206927.2:c.7996C>T MANE Select	NP_001193856.1:p.His2666Tyr
ENST00000327475.11:c.7996C>T MANE Select	ENSP00000333363.7:p.His2666Tyr
NM_001206927.1:c.7996C>T	NP_001193856.1:p.His2666Tyr
NM_001371.3:c.7345C>T	NP_001362.2:p.His2449Tyr
NM_001371.4:c.7345C>T	NP_001362.2:p.His2449Tyr
ENST00000327475.10:c.7996C>T	ENSP00000333363.7:p.His2666Tyr
ENST00000359357.7:c.7345C>T	ENSP00000352312.3:p.His2449Tyr
ENST00000449981.6:c.7996C>T	ENSP00000415331.2:p.His2666Tyr
XM_011514318.1:c.7933C>T	XP_011512620.1:p.His2645Tyr
XM_011514318.2:c.7933C>T	XP_011512620.1:p.His2645Tyr
XM_011514319.1:c.7888C>T	XP_011512621.1:p.His2630Tyr
XM_011514319.2:c.7888C>T	XP_011512621.1:p.His2630Tyr
XM_011514320.1:c.7759C>T	XP_011512622.1:p.His2587Tyr
XM_011514320.2:c.7759C>T	XP_011512622.1:p.His2587Tyr
XM_011514321.1:c.7345C>T	XP_011512623.1:p.His2449Tyr
XM_011514322.1:c.*21C>T	XP_011512624.1:n.*21C>T
XM_017010325.1:c.7996C>T	XP_016865814.1:p.His2666Tyr
XM_017010326.1:c.7996C>T	XP_016865815.1:p.His2666Tyr
XM_017010327.1:c.7996C>T	XP_016865816.1:p.His2666Tyr
XR_001743188.1:n.7879C>T
XR_926078.1:n.8113C>T
XR_926078.2:n.8116C>T