Canonical Allele Identifier: CA364009600
Community Standard Title: NM_001206927.2(DNAH8):c.12963G>A (p.Trp4321Ter)
Gene: DNAH8 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38984217G>A , CM000668.2:g.38984217G>A GRCh38
NC_000006.11:g.38951993G>A , CM000668.1:g.38951993G>A GRCh37
NC_000006.10:g.39059971G>A NCBI36
NG_041805.1:g.273877G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001206927.2:c.12963G>A MANE Select NP_001193856.1:p.Trp4321Ter
ENST00000327475.11:c.12963G>A MANE Select ENSP00000333363.7:p.Trp4321Ter
NM_001206927.1:c.12963G>A NP_001193856.1:p.Trp4321Ter
NM_001371.3:c.12312G>A NP_001362.2:p.Trp4104Ter
NM_001371.4:c.12312G>A NP_001362.2:p.Trp4104Ter
ENST00000327475.10:c.12963G>A ENSP00000333363.7:p.Trp4321Ter
ENST00000359357.7:c.12312G>A ENSP00000352312.3:p.Trp4104Ter
XM_011514318.1:c.12900G>A XP_011512620.1:p.Trp4300Ter
XM_011514318.2:c.12900G>A XP_011512620.1:p.Trp4300Ter
XM_011514319.1:c.12855G>A XP_011512621.1:p.Trp4285Ter
XM_011514319.2:c.12855G>A XP_011512621.1:p.Trp4285Ter
XM_011514320.1:c.12726G>A XP_011512622.1:p.Trp4242Ter
XM_011514320.2:c.12726G>A XP_011512622.1:p.Trp4242Ter
XM_011514321.1:c.12312G>A XP_011512623.1:p.Trp4104Ter
XM_017010325.1:c.12963G>A XP_016865814.1:p.Trp4321Ter
XR_926078.1:n.13080G>A
XR_926078.2:n.13083G>A