Canonical Allele Identifier: CA344439723
Gene: RAB29 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205774904A>G , CM000663.2:g.205774904A>G GRCh38
NC_000001.10:g.205744032A>G , CM000663.1:g.205744032A>G GRCh37
NC_000001.9:g.204010655A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367139.8:c.53T>C MANE Select ENSP00000356107.3:p.Val18Ala
ENST00000235932.8:c.53T>C ENSP00000235932.4:p.Val18Ala
ENST00000367139.7:c.53T>C ENSP00000356107.3:p.Val18Ala
ENST00000414729.1:c.53T>C ENSP00000402910.1:p.Val18Ala
ENST00000437324.6:c.-93+369T>C ENSP00000416613.2:n.-93+369T>C
ENST00000446390.6:c.53T>C ENSP00000389899.2:p.Val18Ala
ENST00000468887.1:n.168+369T>C
ENST00000492534.1:n.248T>C
ENST00000528078.1:c.53T>C ENSP00000431483.1:p.Val18Ala
ENST00000533111.1:n.81+225T>C
NM_001135662.1:c.53T>C NP_001129134.1:p.Val18Ala
NM_001135663.1:c.53T>C NP_001129135.1:p.Val18Ala
NM_001135664.1:c.-93+369T>C NP_001129136.1:n.-93+369T>C
NM_003929.2:c.53T>C NP_003920.1:p.Val18Ala
XM_005245569.1:c.53T>C XP_005245626.1:p.Val18Ala
XM_005245570.1:c.53T>C XP_005245627.1:p.Val18Ala
XM_005245571.1:c.53T>C XP_005245628.1:p.Val18Ala
XM_006711605.2:c.-93+470T>C XP_006711668.1:n.-93+470T>C
XM_006711606.1:c.-93+498T>C XP_006711669.1:n.-93+498T>C
XM_006711605.3:c.-93+470T>C XP_006711668.1:n.-93+470T>C
XM_006711606.3:c.-93+498T>C XP_006711669.1:n.-93+498T>C
XM_017002748.1:c.53T>C XP_016858237.1:p.Val18Ala
XM_017002749.1:c.53T>C XP_016858238.1:p.Val18Ala
XM_017002750.1:c.53T>C XP_016858239.1:p.Val18Ala
NM_003929.3:c.53T>C MANE Select NP_003920.1:p.Val18Ala
NM_001135662.2:c.53T>C NP_001129134.1:p.Val18Ala
NM_001135663.2:c.53T>C NP_001129135.1:p.Val18Ala
NM_001135664.2:c.-93+369T>C NP_001129136.1:n.-93+369T>C