Canonical Allele Identifier: CA348588950
Community Standard Title: NM_012233.3(RAB3GAP1):c.2853C>G (p.Tyr951Ter)
Gene: RAB3GAP1 HGNC NCBI
ZRANB3 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.135168688C>G , CM000664.2:g.135168688C>G GRCh38
NC_000002.11:g.135926258C>G , CM000664.1:g.135926258C>G GRCh37
NC_000002.10:g.135642728C>G NCBI36
NG_016972.1:g.121424C>G

Transcript Alleles

HGVS Amino-acid Change
NM_012233.3:c.2853C>G (RAB3GAP1) MANE Select NP_036365.1:p.Tyr951Ter
ENST00000264158.13:c.2853C>G (RAB3GAP1) MANE Select ENSP00000264158.8:p.Tyr951Ter
NM_001172435.1:c.2874C>G (RAB3GAP1) NP_001165906.1:p.Tyr958Ter
NM_001172435.2:c.2874C>G (RAB3GAP1) NP_001165906.1:p.Tyr958Ter
NM_012233.2:c.2853C>G (RAB3GAP1) NP_036365.1:p.Tyr951Ter
ENST00000264158.12:c.2853C>G (RAB3GAP1) ENSP00000264158.7:p.Tyr951Ter
ENST00000412849.5:n.1782-3534G>C (ZRANB3)
ENST00000442034.5:c.2874C>G (RAB3GAP1) ENSP00000411418.1:p.Tyr958Ter
ENST00000487003.5:n.2922C>G (RAB3GAP1)
ENST00000497080.1:n.141C>G (RAB3GAP1)
ENST00000539493.2:c.2721C>G (RAB3GAP1) ENSP00000444306.1:p.Tyr907Ter
ENST00000539493.3:c.2853C>G (RAB3GAP1) ENSP00000444306.2:p.Tyr951Ter
ENST00000619650.4:c.1618-3534G>C (ZRANB3) ENSP00000480120.1:n.1618-3534G>C
ENST00000685652.1:n.3492C>G (RAB3GAP1)
ENST00000685874.1:n.325C>G (RAB3GAP1)
ENST00000685967.1:c.*2310C>G (RAB3GAP1) ENSP00000508423.1:n.*2310C>G
ENST00000687199.1:c.*2942C>G (RAB3GAP1) ENSP00000510319.1:n.*2942C>G
ENST00000688088.1:n.6035C>G (RAB3GAP1)
ENST00000688182.1:c.315C>G (RAB3GAP1) ENSP00000509324.1:p.Tyr105Ter
ENST00000689187.1:n.2526C>G (RAB3GAP1)
ENST00000690208.1:c.*2531C>G (RAB3GAP1) ENSP00000510746.1:n.*2531C>G
ENST00000691339.1:c.*2497C>G (RAB3GAP1) ENSP00000509953.1:n.*2497C>G
ENST00000691478.1:c.*2952C>G (RAB3GAP1) ENSP00000509081.1:n.*2952C>G
ENST00000692993.1:n.432C>G (RAB3GAP1)
ENST00000693554.1:c.*676C>G (RAB3GAP1) ENSP00000509030.1:n.*676C>G
XM_011510822.1:c.2874C>G (RAB3GAP1) XP_011509124.1:p.Tyr958Ter
XM_011510823.1:c.2853C>G (RAB3GAP1) XP_011509125.1:p.Tyr951Ter
XM_011510823.3:c.2853C>G (RAB3GAP1) XP_011509125.1:p.Tyr951Ter
XM_011510824.1:c.2874C>G (RAB3GAP1) XP_011509126.1:p.Tyr958Ter
XM_011510825.1:c.2853C>G (RAB3GAP1) XP_011509127.1:p.Tyr951Ter
XM_011510825.3:c.2853C>G (RAB3GAP1) XP_011509127.1:p.Tyr951Ter
XM_011511966.3:c.3049-3534G>C (ZRANB3) XP_011510268.2:n.3049-3534G>C
XR_001738674.2:n.2880C>G (RAB3GAP1)