Canonical Allele Identifier: CA711927104
Gene: GOLGA8H HGNC NCBI
DNM1P50 HGNC NCBI
ARHGAP11B-DT HGNC NCBI

Linked Data

dbSNP Id: rs1306956170

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30606302C>A , CM000677.2:g.30606302C>A GRCh38
NC_000015.9:g.30898505C>A , CM000677.1:g.30898505C>A GRCh37
NC_000015.8:g.28685797C>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000566740.2:c.168+340C>A (GOLGA8H) MANE Select ENSP00000456894.1:n.168+340C>A
ENST00000566740.1:c.168+340C>A (GOLGA8H) ENSP00000456894.1:n.168+340C>A
NM_001282490.1:c.168+340C>A (GOLGA8H) NP_001269419.1:n.168+340C>A
XM_006720672.2:c.129+340C>A (GOLGA8H) XP_006720735.1:n.129+340C>A
XM_011521990.1:c.-286+340C>A (GOLGA8H) XP_011520292.1:n.-286+340C>A
XM_011522274.1:c.-308+1916G>T (DNM1P50) XP_011520576.1:n.-308+1916G>T
XM_011522275.1:c.-308+1916G>T (DNM1P50) XP_011520577.1:n.-308+1916G>T
XM_011522276.1:c.-308+1916G>T (DNM1P50) XP_011520578.1:n.-308+1916G>T
XM_011522278.1:c.-308+1916G>T (DNM1P50) XP_011520580.1:n.-308+1916G>T
XM_011522282.1:c.209+1916G>T (DNM1P50) XP_011520584.1:n.209+1916G>T
XM_011522283.1:c.209+1916G>T (DNM1P50) XP_011520585.1:n.209+1916G>T
XR_932037.1:n.1044+1916G>T (DNM1P50)
XR_932039.1:n.1166+1916G>T (DNM1P50)
XR_932042.1:n.786+1916G>T (DNM1P50)
XR_932043.1:n.707+18749G>T (DNM1P50)
XR_932044.1:n.708-12010G>T (DNM1P50)
XR_932045.1:n.707+18749G>T (DNM1P50)
NR_157593.1:n.851-12010G>T (ARHGAP11B-DT)
NR_157594.1:n.849+1916G>T (ARHGAP11B-DT)
NR_157595.1:n.513-12010G>T (ARHGAP11B-DT)
NM_001282490.2:c.168+340C>A (GOLGA8H) MANE Select NP_001269419.1:n.168+340C>A