Canonical Allele Identifier: CA344439837
Gene: RAB29 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.205774937A>G , CM000663.2:g.205774937A>G GRCh38
NC_000001.10:g.205744065A>G , CM000663.1:g.205744065A>G GRCh37
NC_000001.9:g.204010688A>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000367139.8:c.20T>C MANE Select ENSP00000356107.3:p.Leu7Pro
ENST00000235932.8:c.20T>C ENSP00000235932.4:p.Leu7Pro
ENST00000367139.7:c.20T>C ENSP00000356107.3:p.Leu7Pro
ENST00000414729.1:c.20T>C ENSP00000402910.1:p.Leu7Pro
ENST00000437324.6:c.-93+336T>C ENSP00000416613.2:n.-93+336T>C
ENST00000446390.6:c.20T>C ENSP00000389899.2:p.Leu7Pro
ENST00000468887.1:n.168+336T>C
ENST00000492534.1:n.215T>C
ENST00000528078.1:c.20T>C ENSP00000431483.1:p.Leu7Pro
ENST00000533111.1:n.81+192T>C
NM_001135662.1:c.20T>C NP_001129134.1:p.Leu7Pro
NM_001135663.1:c.20T>C NP_001129135.1:p.Leu7Pro
NM_001135664.1:c.-93+336T>C NP_001129136.1:n.-93+336T>C
NM_003929.2:c.20T>C NP_003920.1:p.Leu7Pro
XM_005245569.1:c.20T>C XP_005245626.1:p.Leu7Pro
XM_005245570.1:c.20T>C XP_005245627.1:p.Leu7Pro
XM_005245571.1:c.20T>C XP_005245628.1:p.Leu7Pro
XM_006711605.2:c.-93+437T>C XP_006711668.1:n.-93+437T>C
XM_006711606.1:c.-93+465T>C XP_006711669.1:n.-93+465T>C
XM_006711605.3:c.-93+437T>C XP_006711668.1:n.-93+437T>C
XM_006711606.3:c.-93+465T>C XP_006711669.1:n.-93+465T>C
XM_017002748.1:c.20T>C XP_016858237.1:p.Leu7Pro
XM_017002749.1:c.20T>C XP_016858238.1:p.Leu7Pro
XM_017002750.1:c.20T>C XP_016858239.1:p.Leu7Pro
NM_003929.3:c.20T>C MANE Select NP_003920.1:p.Leu7Pro
NM_001135662.2:c.20T>C NP_001129134.1:p.Leu7Pro
NM_001135663.2:c.20T>C NP_001129135.1:p.Leu7Pro
NM_001135664.2:c.-93+336T>C NP_001129136.1:n.-93+336T>C