Canonical Allele Identifier: CA364017900
Community Standard Title: NM_001206927.2(DNAH8):c.5762G>A (p.Trp1921Ter)
Gene: DNAH8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38857546G>A , CM000668.2:g.38857546G>A GRCh38
NC_000006.11:g.38825322G>A , CM000668.1:g.38825322G>A GRCh37
NC_000006.10:g.38933300G>A NCBI36
NG_041805.1:g.147206G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001206927.2:c.5762G>A MANE Select NP_001193856.1:p.Trp1921Ter
ENST00000327475.11:c.5762G>A MANE Select ENSP00000333363.7:p.Trp1921Ter
NM_001206927.1:c.5762G>A NP_001193856.1:p.Trp1921Ter
NM_001371.3:c.5111G>A NP_001362.2:p.Trp1704Ter
NM_001371.4:c.5111G>A NP_001362.2:p.Trp1704Ter
ENST00000327475.10:c.5762G>A ENSP00000333363.7:p.Trp1921Ter
ENST00000359357.7:c.5111G>A ENSP00000352312.3:p.Trp1704Ter
ENST00000449981.6:c.5762G>A ENSP00000415331.2:p.Trp1921Ter
XM_011514318.1:c.5699G>A XP_011512620.1:p.Trp1900Ter
XM_011514318.2:c.5699G>A XP_011512620.1:p.Trp1900Ter
XM_011514319.1:c.5762G>A XP_011512621.1:p.Trp1921Ter
XM_011514319.2:c.5762G>A XP_011512621.1:p.Trp1921Ter
XM_011514320.1:c.5525G>A XP_011512622.1:p.Trp1842Ter
XM_011514320.2:c.5525G>A XP_011512622.1:p.Trp1842Ter
XM_011514321.1:c.5111G>A XP_011512623.1:p.Trp1704Ter
XM_011514322.1:c.5762G>A XP_011512624.1:p.Trp1921Ter
XM_017010325.1:c.5762G>A XP_016865814.1:p.Trp1921Ter
XM_017010326.1:c.5762G>A XP_016865815.1:p.Trp1921Ter
XM_017010327.1:c.5762G>A XP_016865816.1:p.Trp1921Ter
XR_001743188.1:n.5883G>A
XR_926078.1:n.5879G>A
XR_926078.2:n.5882G>A