Canonical Allele Identifier: CA137597927
Community Standard Title: NM_001206927.2(DNAH8):c.12007+1G>T
Gene: DNAH8 HGNC NCBI
DNAH8-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.38938989G>T , CM000668.2:g.38938989G>T GRCh38
NC_000006.11:g.38906765G>T , CM000668.1:g.38906765G>T GRCh37
NC_000006.10:g.39014743G>T NCBI36
NG_041805.1:g.228649G>T

Transcript Alleles

HGVS Amino-acid Change
NM_001206927.2:c.12007+1G>T (DNAH8) MANE Select NP_001193856.1:n.12007+1G>T
ENST00000327475.11:c.12007+1G>T (DNAH8) MANE Select ENSP00000333363.7:n.12007+1G>T
NM_001206927.1:c.12007+1G>T (DNAH8) NP_001193856.1:n.12007+1G>T
NM_001371.3:c.11356+1G>T (DNAH8) NP_001362.2:n.11356+1G>T
NM_001371.4:c.11356+1G>T (DNAH8) NP_001362.2:n.11356+1G>T
NR_038401.1:n.61-2597C>A (DNAH8-AS1)
ENST00000327475.10:c.12007+1G>T (DNAH8) ENSP00000333363.7:n.12007+1G>T
ENST00000359357.7:c.11356+1G>T (DNAH8) ENSP00000352312.3:n.11356+1G>T
ENST00000449981.6:c.12007+1G>T (DNAH8) ENSP00000415331.2:n.12007+1G>T
XM_011514318.1:c.11944+1G>T (DNAH8) XP_011512620.1:n.11944+1G>T
XM_011514318.2:c.11944+1G>T (DNAH8) XP_011512620.1:n.11944+1G>T
XM_011514319.1:c.11899+1G>T (DNAH8) XP_011512621.1:n.11899+1G>T
XM_011514319.2:c.11899+1G>T (DNAH8) XP_011512621.1:n.11899+1G>T
XM_011514320.1:c.11770+1G>T (DNAH8) XP_011512622.1:n.11770+1G>T
XM_011514320.2:c.11770+1G>T (DNAH8) XP_011512622.1:n.11770+1G>T
XM_011514321.1:c.11356+1G>T (DNAH8) XP_011512623.1:n.11356+1G>T
XM_017010325.1:c.12007+1G>T (DNAH8) XP_016865814.1:n.12007+1G>T
XM_017010326.1:c.12007+1G>T (DNAH8) XP_016865815.1:n.12007+1G>T
XR_926078.1:n.12124+1G>T (DNAH8)
XR_926078.2:n.12127+1G>T (DNAH8)