Canonical Allele Identifier: CA36501791

Gene: RAB29

Linked Data

• dbSNP Id: rs892067002
• gnomAD v2: 1-205744347-C-G
• gnomAD v3: 1-205775219-C-G
• gnomAD v4: 1-205775219-C-G
• MyVariant Identifiers: chr1:g.205744347C>G (hg19) ; chr1:g.205775219C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205775219C>G , CM000663.2:g.205775219C>G	GRCh38
NC_000001.10:g.205744347C>G , CM000663.1:g.205744347C>G	GRCh37
NC_000001.9:g.204010970C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000367139.8:c.-131+54G>C MANE Select	ENSP00000356107.3:n.-131+54G>C
ENST00000235932.8:c.-130-133G>C	ENSP00000235932.4:n.-130-133G>C
ENST00000367139.7:c.-131+54G>C	ENSP00000356107.3:n.-131+54G>C
ENST00000414729.1:c.-263G>C	ENSP00000402910.1:n.-263G>C
ENST00000437324.6:c.-93+54G>C	ENSP00000416613.2:n.-93+54G>C
ENST00000446390.6:c.-263G>C	ENSP00000389899.2:n.-263G>C
ENST00000468887.1:n.168+54G>C
ENST00000528078.1:c.-131+54G>C	ENSP00000431483.1:n.-131+54G>C
NM_001135662.1:c.-130-133G>C	NP_001129134.1:n.-130-133G>C
NM_001135663.1:c.-263G>C	NP_001129135.1:n.-263G>C
NM_001135664.1:c.-93+54G>C	NP_001129136.1:n.-93+54G>C
NM_003929.2:c.-131+54G>C	NP_003920.1:n.-131+54G>C
XM_005245569.1:c.-135-128G>C	XP_005245626.1:n.-135-128G>C
XM_005245570.1:c.-136+54G>C	XP_005245627.1:n.-136+54G>C
XM_005245571.1:c.-130-133G>C	XP_005245628.1:n.-130-133G>C
XM_006711605.2:c.-93+155G>C	XP_006711668.1:n.-93+155G>C
XM_006711606.1:c.-93+183G>C	XP_006711669.1:n.-93+183G>C
XM_006711605.3:c.-93+155G>C	XP_006711668.1:n.-93+155G>C
XM_006711606.3:c.-93+183G>C	XP_006711669.1:n.-93+183G>C
XM_017002748.1:c.-131+54G>C	XP_016858237.1:n.-131+54G>C
XM_017002749.1:c.-136+54G>C	XP_016858238.1:n.-136+54G>C
XM_017002750.1:c.-130-133G>C	XP_016858239.1:n.-130-133G>C
NM_003929.3:c.-131+54G>C MANE Select	NP_003920.1:n.-131+54G>C
NM_001135662.2:c.-130-133G>C	NP_001129134.1:n.-130-133G>C
NM_001135663.2:c.-263G>C	NP_001129135.1:n.-263G>C
NM_001135664.2:c.-93+54G>C	NP_001129136.1:n.-93+54G>C