Canonical Allele Identifier: CA2167575905
Gene: GOLGA8H HGNC NCBI
DNM1P50 HGNC NCBI
ARHGAP11B-DT HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.30606134C= , CM000677.2:g.30606134C= GRCh38
NC_000015.9:g.30898337C= , CM000677.1:g.30898337C= GRCh37
NC_000015.8:g.28685629C= NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000566740.2:c.168+172C= (GOLGA8H) MANE Select ENSP00000456894.1:n.168+172C=
ENST00000566740.1:c.168+172C= (GOLGA8H) ENSP00000456894.1:n.168+172C=
NM_001282490.1:c.168+172C= (GOLGA8H) NP_001269419.1:n.168+172C=
XM_006720672.2:c.129+172C= (GOLGA8H) XP_006720735.1:n.129+172C=
XM_011521990.1:c.-286+172C= (GOLGA8H) XP_011520292.1:n.-286+172C=
XM_011522274.1:c.-308+2084G= (DNM1P50) XP_011520576.1:n.-308+2084G=
XM_011522275.1:c.-308+2084G= (DNM1P50) XP_011520577.1:n.-308+2084G=
XM_011522276.1:c.-308+2084G= (DNM1P50) XP_011520578.1:n.-308+2084G=
XM_011522278.1:c.-308+2084G= (DNM1P50) XP_011520580.1:n.-308+2084G=
XM_011522282.1:c.209+2084G= (DNM1P50) XP_011520584.1:n.209+2084G=
XM_011522283.1:c.209+2084G= (DNM1P50) XP_011520585.1:n.209+2084G=
XR_932037.1:n.1044+2084G= (DNM1P50)
XR_932039.1:n.1166+2084G= (DNM1P50)
XR_932042.1:n.786+2084G= (DNM1P50)
XR_932043.1:n.707+18917G= (DNM1P50)
XR_932044.1:n.708-11842G= (DNM1P50)
XR_932045.1:n.707+18917G= (DNM1P50)
NR_157593.1:n.851-11842G= (ARHGAP11B-DT)
NR_157594.1:n.849+2084G= (ARHGAP11B-DT)
NR_157595.1:n.513-11842G= (ARHGAP11B-DT)
NM_001282490.2:c.168+172C= (GOLGA8H) MANE Select NP_001269419.1:n.168+172C=