Canonical Allele Identifier: CA363996453
Community Standard Title: NM_001206927.2(DNAH8):c.12249-2A>T
Gene: DNAH8 HGNC NCBI
DNAH8-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38951316A>T , CM000668.2:g.38951316A>T GRCh38
NC_000006.11:g.38919092A>T , CM000668.1:g.38919092A>T GRCh37
NC_000006.10:g.39027070A>T NCBI36
NG_041805.1:g.240976A>T

Transcript Alleles

HGVS Amino-acid Change
NM_001206927.2:c.12249-2A>T (DNAH8) MANE Select NP_001193856.1:n.12249-2A>T
ENST00000327475.11:c.12249-2A>T (DNAH8) MANE Select ENSP00000333363.7:n.12249-2A>T
NM_001206927.1:c.12249-2A>T (DNAH8) NP_001193856.1:n.12249-2A>T
NM_001371.3:c.11598-2A>T (DNAH8) NP_001362.2:n.11598-2A>T
NM_001371.4:c.11598-2A>T (DNAH8) NP_001362.2:n.11598-2A>T
NR_038401.1:n.60+1732T>A (DNAH8-AS1)
ENST00000327475.10:c.12249-2A>T (DNAH8) ENSP00000333363.7:n.12249-2A>T
ENST00000359357.7:c.11598-2A>T (DNAH8) ENSP00000352312.3:n.11598-2A>T
ENST00000449981.6:c.12249-2A>T (DNAH8) ENSP00000415331.2:n.12249-2A>T
XM_011514318.1:c.12186-2A>T (DNAH8) XP_011512620.1:n.12186-2A>T
XM_011514318.2:c.12186-2A>T (DNAH8) XP_011512620.1:n.12186-2A>T
XM_011514319.1:c.12141-2A>T (DNAH8) XP_011512621.1:n.12141-2A>T
XM_011514319.2:c.12141-2A>T (DNAH8) XP_011512621.1:n.12141-2A>T
XM_011514320.1:c.12012-2A>T (DNAH8) XP_011512622.1:n.12012-2A>T
XM_011514320.2:c.12012-2A>T (DNAH8) XP_011512622.1:n.12012-2A>T
XM_011514321.1:c.11598-2A>T (DNAH8) XP_011512623.1:n.11598-2A>T
XM_017010325.1:c.12249-2A>T (DNAH8) XP_016865814.1:n.12249-2A>T
XM_017010326.1:c.12130-2A>T (DNAH8) XP_016865815.1:n.12130-2A>T
XR_926078.1:n.12366-2A>T (DNAH8)
XR_926078.2:n.12369-2A>T (DNAH8)