Canonical Allele Identifier: CA364005382
Community Standard Title: NM_001206927.2(DNAH8):c.9898A>T (p.Lys3300Ter)
Gene: DNAH8 HGNC NCBI
DNAH8-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38913887A>T , CM000668.2:g.38913887A>T GRCh38
NC_000006.11:g.38881663A>T , CM000668.1:g.38881663A>T GRCh37
NC_000006.10:g.38989641A>T NCBI36
NG_041805.1:g.203547A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001206927.2:c.9898A>T (DNAH8) MANE Select NP_001193856.1:p.Lys3300Ter
ENST00000327475.11:c.9898A>T (DNAH8) MANE Select ENSP00000333363.7:p.Lys3300Ter
NM_001206927.1:c.9898A>T (DNAH8) NP_001193856.1:p.Lys3300Ter
NM_001371.3:c.9247A>T (DNAH8) NP_001362.2:p.Lys3083Ter
NM_001371.4:c.9247A>T (DNAH8) NP_001362.2:p.Lys3083Ter
NR_038401.1:n.783-6050T>A (DNAH8-AS1)
ENST00000327475.10:c.9898A>T (DNAH8) ENSP00000333363.7:p.Lys3300Ter
ENST00000359357.7:c.9247A>T (DNAH8) ENSP00000352312.3:p.Lys3083Ter
ENST00000449981.6:c.9898A>T (DNAH8) ENSP00000415331.2:p.Lys3300Ter
XM_011514318.1:c.9835A>T (DNAH8) XP_011512620.1:p.Lys3279Ter
XM_011514318.2:c.9835A>T (DNAH8) XP_011512620.1:p.Lys3279Ter
XM_011514319.1:c.9790A>T (DNAH8) XP_011512621.1:p.Lys3264Ter
XM_011514319.2:c.9790A>T (DNAH8) XP_011512621.1:p.Lys3264Ter
XM_011514320.1:c.9661A>T (DNAH8) XP_011512622.1:p.Lys3221Ter
XM_011514320.2:c.9661A>T (DNAH8) XP_011512622.1:p.Lys3221Ter
XM_011514321.1:c.9247A>T (DNAH8) XP_011512623.1:p.Lys3083Ter
XM_017010325.1:c.9898A>T (DNAH8) XP_016865814.1:p.Lys3300Ter
XM_017010326.1:c.9898A>T (DNAH8) XP_016865815.1:p.Lys3300Ter
XR_926078.1:n.10015A>T (DNAH8)
XR_926078.2:n.10018A>T (DNAH8)