Canonical Allele Identifier: CA8465946
Community Standard Title: NM_031934.6(RAB34):c.691C>T (p.Arg231Ter)
Gene: RAB34 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.28714814G>A , CM000679.2:g.28714814G>A GRCh38
NC_000017.10:g.27041832G>A , CM000679.1:g.27041832G>A GRCh37
NC_000017.9:g.24065959G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_031934.6:c.691C>T MANE Select NP_114140.4:p.Arg231Ter
ENST00000395245.9:c.691C>T MANE Select ENSP00000378666.3:p.Arg231Ter
NM_001142624.2:c.838C>T NP_001136096.2:p.Arg280Ter
NM_001142625.2:c.748-183C>T NP_001136097.2:n.748-183C>T
NM_001144942.1:c.667C>T NP_001138414.1:p.Arg223Ter
NM_001144942.2:c.667C>T NP_001138414.1:p.Arg223Ter
NM_001144943.1:c.862C>T NP_001138415.1:p.Arg288Ter
NM_001256276.1:c.625C>T NP_001243205.1:p.Arg209Ter
NM_001256276.2:c.625C>T NP_001243205.1:p.Arg209Ter
NM_001256277.1:c.691C>T NP_001243206.1:p.Arg231Ter
NM_001256277.2:c.691C>T NP_001243206.1:p.Arg231Ter
NM_001256278.1:c.691C>T NP_001243207.1:p.Arg231Ter
NM_001256281.2:c.*539C>T NP_001243210.1:n.*539C>T
NM_001256281.3:c.*539C>T NP_001243210.1:n.*539C>T
NM_031934.5:c.691C>T NP_114140.4:p.Arg231Ter
ENST00000301043.10:c.691C>T ENSP00000301043.6:p.Arg231Ter
ENST00000395242.6:c.694C>T ENSP00000378663.2:p.Arg232Ter
ENST00000395243.7:c.667C>T ENSP00000378664.3:p.Arg223Ter
ENST00000395245.7:c.691C>T ENSP00000378666.3:p.Arg231Ter
ENST00000415040.6:c.625C>T ENSP00000410279.2:p.Arg209Ter
ENST00000422279.6:c.*117C>T ENSP00000397499.2:n.*117C>T
ENST00000430132.6:c.691C>T ENSP00000407953.2:p.Arg231Ter
ENST00000436730.7:c.691C>T ENSP00000404180.3:p.Arg231Ter
ENST00000450529.5:c.667C>T ENSP00000391048.1:p.Arg223Ter
ENST00000453384.7:c.748-183C>T ENSP00000413156.3:n.748-183C>T
ENST00000474704.1:n.593C>T
ENST00000484161.5:n.300C>T
ENST00000583538.5:c.408C>T
ENST00000625712.2:c.577-183C>T ENSP00000487160.1:n.577-183C>T
ENST00000636772.1:c.*264C>T ENSP00000489794.1:n.*264C>T
XM_024450968.1:c.1138C>T XP_024306736.1:p.Arg380Ter
XM_024450969.1:c.1135C>T XP_024306737.1:p.Arg379Ter
XM_024450970.1:c.1114C>T XP_024306738.1:p.Arg372Ter
XM_024450971.1:c.937C>T XP_024306739.1:p.Arg313Ter
XM_024450972.1:c.934C>T XP_024306740.1:p.Arg312Ter
XM_024450973.1:c.865C>T XP_024306741.1:p.Arg289Ter
XM_024450975.1:c.841C>T XP_024306743.1:p.Arg281Ter
XM_024450976.1:c.796C>T XP_024306744.1:p.Arg266Ter
XM_024450977.1:c.766C>T XP_024306745.1:p.Arg256Ter
XM_024450978.1:c.766C>T XP_024306746.1:p.Arg256Ter
XM_024450979.1:c.766C>T XP_024306747.1:p.Arg256Ter
XM_024450980.1:c.763C>T XP_024306748.1:p.Arg255Ter
XM_024450981.1:c.763C>T XP_024306749.1:p.Arg255Ter
XM_024450982.1:c.763C>T XP_024306750.1:p.Arg255Ter
XM_024450983.1:c.691C>T XP_024306751.1:p.Arg231Ter
XM_024450984.1:c.691C>T XP_024306752.1:p.Arg231Ter
XM_024450985.1:c.670C>T XP_024306753.1:p.Arg224Ter
XM_024450986.1:c.667C>T XP_024306754.1:p.Arg223Ter
XM_024450987.1:c.625C>T XP_024306755.1:p.Arg209Ter
XM_024450988.1:c.493C>T XP_024306756.1:p.Arg165Ter
XM_024450989.1:c.493C>T XP_024306757.1:p.Arg165Ter
XM_024450990.1:c.421C>T XP_024306758.1:p.Arg141Ter
XM_024450991.1:c.421C>T XP_024306759.1:p.Arg141Ter
XM_024450992.1:c.421C>T XP_024306760.1:p.Arg141Ter
XM_024450993.1:c.397C>T XP_024306761.1:p.Arg133Ter