Canonical Allele Identifier: CA3790309
Community Standard Title: NM_001206927.2(DNAH8):c.8761G>T (p.Glu2921Ter)
Gene: DNAH8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38896046G>T , CM000668.2:g.38896046G>T GRCh38
NC_000006.11:g.38863822G>T , CM000668.1:g.38863822G>T GRCh37
NC_000006.10:g.38971800G>T NCBI36
NG_041805.1:g.185706G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001206927.2:c.8761G>T MANE Select NP_001193856.1:p.Glu2921Ter
ENST00000327475.11:c.8761G>T MANE Select ENSP00000333363.7:p.Glu2921Ter
NM_001206927.1:c.8761G>T NP_001193856.1:p.Glu2921Ter
NM_001371.3:c.8110G>T NP_001362.2:p.Glu2704Ter
NM_001371.4:c.8110G>T NP_001362.2:p.Glu2704Ter
ENST00000327475.10:c.8761G>T ENSP00000333363.7:p.Glu2921Ter
ENST00000359357.7:c.8110G>T ENSP00000352312.3:p.Glu2704Ter
ENST00000449981.6:c.8761G>T ENSP00000415331.2:p.Glu2921Ter
XM_011514318.1:c.8698G>T XP_011512620.1:p.Glu2900Ter
XM_011514318.2:c.8698G>T XP_011512620.1:p.Glu2900Ter
XM_011514319.1:c.8653G>T XP_011512621.1:p.Glu2885Ter
XM_011514319.2:c.8653G>T XP_011512621.1:p.Glu2885Ter
XM_011514320.1:c.8524G>T XP_011512622.1:p.Glu2842Ter
XM_011514320.2:c.8524G>T XP_011512622.1:p.Glu2842Ter
XM_011514321.1:c.8110G>T XP_011512623.1:p.Glu2704Ter
XM_017010325.1:c.8761G>T XP_016865814.1:p.Glu2921Ter
XM_017010326.1:c.8761G>T XP_016865815.1:p.Glu2921Ter
XR_926078.1:n.8878G>T
XR_926078.2:n.8881G>T