Canonical Allele Identifier: CA348577050
Gene: RAB3GAP1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135135642T>C , CM000664.2:g.135135642T>C GRCh38
NC_000002.11:g.135893212T>C , CM000664.1:g.135893212T>C GRCh37
NC_000002.10:g.135609682T>C NCBI36
NG_016972.1:g.88378T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000539493.3:c.1633T>C ENSP00000444306.2:p.Tyr545His
ENST00000685967.1:c.*1090T>C ENSP00000508423.1:n.*1090T>C
ENST00000686114.1:n.1979T>C
ENST00000687199.1:c.*1701T>C ENSP00000510319.1:n.*1701T>C
ENST00000688088.1:n.1652T>C
ENST00000688182.1:c.151-32051T>C ENSP00000509324.1:n.151-32051T>C
ENST00000689880.1:n.1652T>C
ENST00000690208.1:c.*1311T>C ENSP00000510746.1:n.*1311T>C
ENST00000690785.1:n.1652T>C
ENST00000691339.1:c.*1256T>C ENSP00000509953.1:n.*1256T>C
ENST00000691478.1:c.*1732T>C ENSP00000509081.1:n.*1732T>C
ENST00000693554.1:c.1633T>C ENSP00000509030.1:p.Tyr545His
ENST00000264158.13:c.1633T>C MANE Select ENSP00000264158.8:p.Tyr545His
ENST00000264158.12:c.1633T>C ENSP00000264158.7:p.Tyr545His
ENST00000442034.5:c.1633T>C ENSP00000411418.1:p.Tyr545His
ENST00000487003.5:n.1702T>C
ENST00000539493.2:c.1501T>C ENSP00000444306.1:p.Tyr501His
NM_001172435.1:c.1633T>C NP_001165906.1:p.Tyr545His
NM_012233.2:c.1633T>C NP_036365.1:p.Tyr545His
XM_011510822.1:c.1633T>C XP_011509124.1:p.Tyr545His
XM_011510823.1:c.1633T>C XP_011509125.1:p.Tyr545His
XM_011510824.1:c.1633T>C XP_011509126.1:p.Tyr545His
XM_011510825.1:c.1633T>C XP_011509127.1:p.Tyr545His
XM_011510823.3:c.1633T>C XP_011509125.1:p.Tyr545His
XM_011510825.3:c.1633T>C XP_011509127.1:p.Tyr545His
XR_001738674.2:n.1660T>C
NM_001172435.2:c.1633T>C NP_001165906.1:p.Tyr545His
NM_012233.3:c.1633T>C MANE Select NP_036365.1:p.Tyr545His