Canonical Allele Identifier: CA711927189

Gene: GOLGA8H DNM1P50 ARHGAP11B-DT

Linked Data

• dbSNP Id: rs1236518589
• MyVariant Identifiers: chr15:g.30898600C>T (hg19) ; chr15:g.30606397C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30606397C>T , CM000677.2:g.30606397C>T	GRCh38
NC_000015.9:g.30898600C>T , CM000677.1:g.30898600C>T	GRCh37
NC_000015.8:g.28685892C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000566740.2:c.168+435C>T (GOLGA8H) MANE Select	ENSP00000456894.1:n.168+435C>T
ENST00000566740.1:c.168+435C>T (GOLGA8H)	ENSP00000456894.1:n.168+435C>T
NM_001282490.1:c.168+435C>T (GOLGA8H)	NP_001269419.1:n.168+435C>T
XM_006720672.2:c.129+435C>T (GOLGA8H)	XP_006720735.1:n.129+435C>T
XM_011521990.1:c.-286+435C>T (GOLGA8H)	XP_011520292.1:n.-286+435C>T
XM_011522274.1:c.-308+1821G>A (DNM1P50)	XP_011520576.1:n.-308+1821G>A
XM_011522275.1:c.-308+1821G>A (DNM1P50)	XP_011520577.1:n.-308+1821G>A
XM_011522276.1:c.-308+1821G>A (DNM1P50)	XP_011520578.1:n.-308+1821G>A
XM_011522278.1:c.-308+1821G>A (DNM1P50)	XP_011520580.1:n.-308+1821G>A
XM_011522282.1:c.209+1821G>A (DNM1P50)	XP_011520584.1:n.209+1821G>A
XM_011522283.1:c.209+1821G>A (DNM1P50)	XP_011520585.1:n.209+1821G>A
XR_932037.1:n.1044+1821G>A (DNM1P50)
XR_932039.1:n.1166+1821G>A (DNM1P50)
XR_932042.1:n.786+1821G>A (DNM1P50)
XR_932043.1:n.707+18654G>A (DNM1P50)
XR_932044.1:n.708-12105G>A (DNM1P50)
XR_932045.1:n.707+18654G>A (DNM1P50)
NR_157593.1:n.851-12105G>A (ARHGAP11B-DT)
NR_157594.1:n.849+1821G>A (ARHGAP11B-DT)
NR_157595.1:n.513-12105G>A (ARHGAP11B-DT)
NM_001282490.2:c.168+435C>T (GOLGA8H) MANE Select	NP_001269419.1:n.168+435C>T