Canonical Allele Identifier: CA348585962

Gene: RAB3GAP1 ZRANB3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.135162847T>A , CM000664.2:g.135162847T>A	GRCh38
NC_000002.11:g.135920417T>A , CM000664.1:g.135920417T>A	GRCh37
NC_000002.10:g.135636887T>A	NCBI36
NG_016972.1:g.115583T>A

Transcript Alleles

HGVS	Amino-acid Change
NM_012233.3:c.2486T>A (RAB3GAP1) MANE Select	NP_036365.1:p.Leu829Ter
ENST00000264158.13:c.2486T>A (RAB3GAP1) MANE Select	ENSP00000264158.8:p.Leu829Ter
NM_001172435.1:c.2486T>A (RAB3GAP1)	NP_001165906.1:p.Leu829Ter
NM_001172435.2:c.2486T>A (RAB3GAP1)	NP_001165906.1:p.Leu829Ter
NM_012233.2:c.2486T>A (RAB3GAP1)	NP_036365.1:p.Leu829Ter
ENST00000264158.12:c.2486T>A (RAB3GAP1)	ENSP00000264158.7:p.Leu829Ter
ENST00000412849.5:n.1794-220A>T (ZRANB3)
ENST00000442034.5:c.2486T>A (RAB3GAP1)	ENSP00000411418.1:p.Leu829Ter
ENST00000487003.5:n.2555T>A (RAB3GAP1)
ENST00000539493.2:c.2354T>A (RAB3GAP1)	ENSP00000444306.1:p.Leu785Ter
ENST00000539493.3:c.2486T>A (RAB3GAP1)	ENSP00000444306.2:p.Leu829Ter
ENST00000619650.4:c.1630-220A>T (ZRANB3)	ENSP00000480120.1:n.1630-220A>T
ENST00000684914.1:n.812T>A (RAB3GAP1)
ENST00000685652.1:n.3125T>A (RAB3GAP1)
ENST00000685967.1:c.*1943T>A (RAB3GAP1)	ENSP00000508423.1:n.*1943T>A
ENST00000687199.1:c.*2554T>A (RAB3GAP1)	ENSP00000510319.1:n.*2554T>A
ENST00000688088.1:n.5647T>A (RAB3GAP1)
ENST00000688182.1:c.151-4846T>A (RAB3GAP1)	ENSP00000509324.1:n.151-4846T>A
ENST00000689187.1:n.1918T>A (RAB3GAP1)
ENST00000690208.1:c.*2164T>A (RAB3GAP1)	ENSP00000510746.1:n.*2164T>A
ENST00000690785.1:n.2505T>A (RAB3GAP1)
ENST00000691339.1:c.*2109T>A (RAB3GAP1)	ENSP00000509953.1:n.*2109T>A
ENST00000691478.1:c.*2585T>A (RAB3GAP1)	ENSP00000509081.1:n.*2585T>A
ENST00000693554.1:c.*288T>A (RAB3GAP1)	ENSP00000509030.1:n.*288T>A
XM_011510822.1:c.2486T>A (RAB3GAP1)	XP_011509124.1:p.Leu829Ter
XM_011510823.1:c.2486T>A (RAB3GAP1)	XP_011509125.1:p.Leu829Ter
XM_011510823.3:c.2486T>A (RAB3GAP1)	XP_011509125.1:p.Leu829Ter
XM_011510824.1:c.2486T>A (RAB3GAP1)	XP_011509126.1:p.Leu829Ter
XM_011510825.1:c.2486T>A (RAB3GAP1)	XP_011509127.1:p.Leu829Ter
XM_011510825.3:c.2486T>A (RAB3GAP1)	XP_011509127.1:p.Leu829Ter
XR_001738674.2:n.2513T>A (RAB3GAP1)