Canonical Allele Identifier: CA617109594

Gene: GOLGA8H DNM1P50 ARHGAP11B-DT

Linked Data

• dbSNP Id: rs1194574392
• gnomAD v2: 15-30898339-T-G
• gnomAD v3: 15-30606136-T-G
• gnomAD v4: 15-30606136-T-G
• MyVariant Identifiers: chr15:g.30898339T>G (hg19) ; chr15:g.30606136T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.30606136T>G , CM000677.2:g.30606136T>G	GRCh38
NC_000015.9:g.30898339T>G , CM000677.1:g.30898339T>G	GRCh37
NC_000015.8:g.28685631T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000566740.2:c.168+174T>G (GOLGA8H) MANE Select	ENSP00000456894.1:n.168+174T>G
ENST00000566740.1:c.168+174T>G (GOLGA8H)	ENSP00000456894.1:n.168+174T>G
NM_001282490.1:c.168+174T>G (GOLGA8H)	NP_001269419.1:n.168+174T>G
XM_006720672.2:c.129+174T>G (GOLGA8H)	XP_006720735.1:n.129+174T>G
XM_011521990.1:c.-286+174T>G (GOLGA8H)	XP_011520292.1:n.-286+174T>G
XM_011522274.1:c.-308+2082A>C (DNM1P50)	XP_011520576.1:n.-308+2082A>C
XM_011522275.1:c.-308+2082A>C (DNM1P50)	XP_011520577.1:n.-308+2082A>C
XM_011522276.1:c.-308+2082A>C (DNM1P50)	XP_011520578.1:n.-308+2082A>C
XM_011522278.1:c.-308+2082A>C (DNM1P50)	XP_011520580.1:n.-308+2082A>C
XM_011522282.1:c.209+2082A>C (DNM1P50)	XP_011520584.1:n.209+2082A>C
XM_011522283.1:c.209+2082A>C (DNM1P50)	XP_011520585.1:n.209+2082A>C
XR_932037.1:n.1044+2082A>C (DNM1P50)
XR_932039.1:n.1166+2082A>C (DNM1P50)
XR_932042.1:n.786+2082A>C (DNM1P50)
XR_932043.1:n.707+18915A>C (DNM1P50)
XR_932044.1:n.708-11844A>C (DNM1P50)
XR_932045.1:n.707+18915A>C (DNM1P50)
NR_157593.1:n.851-11844A>C (ARHGAP11B-DT)
NR_157594.1:n.849+2082A>C (ARHGAP11B-DT)
NR_157595.1:n.513-11844A>C (ARHGAP11B-DT)
NM_001282490.2:c.168+174T>G (GOLGA8H) MANE Select	NP_001269419.1:n.168+174T>G