Canonical Allele Identifier: CA3790563
Community Standard Title: NM_001206927.2(DNAH8):c.9748C>T (p.Arg3250Ter)
Gene: DNAH8 HGNC NCBI
DNAH8-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38911475C>T , CM000668.2:g.38911475C>T GRCh38
NC_000006.11:g.38879251C>T , CM000668.1:g.38879251C>T GRCh37
NC_000006.10:g.38987229C>T NCBI36
NG_041805.1:g.201135C>T

Transcript Alleles

HGVS Amino-acid Change
NM_001206927.2:c.9748C>T (DNAH8) MANE Select NP_001193856.1:p.Arg3250Ter
ENST00000327475.11:c.9748C>T (DNAH8) MANE Select ENSP00000333363.7:p.Arg3250Ter
NM_001206927.1:c.9748C>T (DNAH8) NP_001193856.1:p.Arg3250Ter
NM_001371.3:c.9097C>T (DNAH8) NP_001362.2:p.Arg3033Ter
NM_001371.4:c.9097C>T (DNAH8) NP_001362.2:p.Arg3033Ter
NR_038401.1:n.783-3638G>A (DNAH8-AS1)
ENST00000327475.10:c.9748C>T (DNAH8) ENSP00000333363.7:p.Arg3250Ter
ENST00000359357.7:c.9097C>T (DNAH8) ENSP00000352312.3:p.Arg3033Ter
ENST00000449981.6:c.9748C>T (DNAH8) ENSP00000415331.2:p.Arg3250Ter
XM_011514318.1:c.9685C>T (DNAH8) XP_011512620.1:p.Arg3229Ter
XM_011514318.2:c.9685C>T (DNAH8) XP_011512620.1:p.Arg3229Ter
XM_011514319.1:c.9640C>T (DNAH8) XP_011512621.1:p.Arg3214Ter
XM_011514319.2:c.9640C>T (DNAH8) XP_011512621.1:p.Arg3214Ter
XM_011514320.1:c.9511C>T (DNAH8) XP_011512622.1:p.Arg3171Ter
XM_011514320.2:c.9511C>T (DNAH8) XP_011512622.1:p.Arg3171Ter
XM_011514321.1:c.9097C>T (DNAH8) XP_011512623.1:p.Arg3033Ter
XM_017010325.1:c.9748C>T (DNAH8) XP_016865814.1:p.Arg3250Ter
XM_017010326.1:c.9748C>T (DNAH8) XP_016865815.1:p.Arg3250Ter
XR_926078.1:n.9865C>T (DNAH8)
XR_926078.2:n.9868C>T (DNAH8)