Canonical Allele Identifier: CA344439738
Gene: RAB29 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205774910G>A , CM000663.2:g.205774910G>A GRCh38
NC_000001.10:g.205744038G>A , CM000663.1:g.205744038G>A GRCh37
NC_000001.9:g.204010661G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367139.8:c.47C>T MANE Select ENSP00000356107.3:p.Ala16Val
ENST00000235932.8:c.47C>T ENSP00000235932.4:p.Ala16Val
ENST00000367139.7:c.47C>T ENSP00000356107.3:p.Ala16Val
ENST00000414729.1:c.47C>T ENSP00000402910.1:p.Ala16Val
ENST00000437324.6:c.-93+363C>T ENSP00000416613.2:n.-93+363C>T
ENST00000446390.6:c.47C>T ENSP00000389899.2:p.Ala16Val
ENST00000468887.1:n.168+363C>T
ENST00000492534.1:n.242C>T
ENST00000528078.1:c.47C>T ENSP00000431483.1:p.Ala16Val
ENST00000533111.1:n.81+219C>T
NM_001135662.1:c.47C>T NP_001129134.1:p.Ala16Val
NM_001135663.1:c.47C>T NP_001129135.1:p.Ala16Val
NM_001135664.1:c.-93+363C>T NP_001129136.1:n.-93+363C>T
NM_003929.2:c.47C>T NP_003920.1:p.Ala16Val
XM_005245569.1:c.47C>T XP_005245626.1:p.Ala16Val
XM_005245570.1:c.47C>T XP_005245627.1:p.Ala16Val
XM_005245571.1:c.47C>T XP_005245628.1:p.Ala16Val
XM_006711605.2:c.-93+464C>T XP_006711668.1:n.-93+464C>T
XM_006711606.1:c.-93+492C>T XP_006711669.1:n.-93+492C>T
XM_006711605.3:c.-93+464C>T XP_006711668.1:n.-93+464C>T
XM_006711606.3:c.-93+492C>T XP_006711669.1:n.-93+492C>T
XM_017002748.1:c.47C>T XP_016858237.1:p.Ala16Val
XM_017002749.1:c.47C>T XP_016858238.1:p.Ala16Val
XM_017002750.1:c.47C>T XP_016858239.1:p.Ala16Val
NM_003929.3:c.47C>T MANE Select NP_003920.1:p.Ala16Val
NM_001135662.2:c.47C>T NP_001129134.1:p.Ala16Val
NM_001135663.2:c.47C>T NP_001129135.1:p.Ala16Val
NM_001135664.2:c.-93+363C>T NP_001129136.1:n.-93+363C>T