Canonical Allele Identifier: CA10699075

Gene: RAB29

Linked Data

• dbSNP Id: rs1572931
• gnomAD v2: 1-205744218-C-T
• gnomAD v3: 1-205775090-C-T
• gnomAD v4: 1-205775090-C-T
• MyVariant Identifiers: chr1:g.205744218C>T (hg19) ; chr1:g.205775090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.205775090C>T , CM000663.2:g.205775090C>T	GRCh38
NC_000001.10:g.205744218C>T , CM000663.1:g.205744218C>T	GRCh37
NC_000001.9:g.204010841C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000367139.8:c.-130-4G>A MANE Select	ENSP00000356107.3:n.-130-4G>A
ENST00000235932.8:c.-130-4G>A	ENSP00000235932.4:n.-130-4G>A
ENST00000367139.7:c.-130-4G>A	ENSP00000356107.3:n.-130-4G>A
ENST00000414729.1:c.-134G>A	ENSP00000402910.1:n.-134G>A
ENST00000437324.6:c.-93+183G>A	ENSP00000416613.2:n.-93+183G>A
ENST00000446390.6:c.-134G>A	ENSP00000389899.2:n.-134G>A
ENST00000468887.1:n.168+183G>A
ENST00000492534.1:n.62G>A
ENST00000528078.1:c.-130-4G>A	ENSP00000431483.1:n.-130-4G>A
ENST00000533111.1:n.81+39G>A
NM_001135662.1:c.-130-4G>A	NP_001129134.1:n.-130-4G>A
NM_001135663.1:c.-134G>A	NP_001129135.1:n.-134G>A
NM_001135664.1:c.-93+183G>A	NP_001129136.1:n.-93+183G>A
NM_003929.2:c.-130-4G>A	NP_003920.1:n.-130-4G>A
XM_005245569.1:c.-134G>A	XP_005245626.1:n.-134G>A
XM_005245570.1:c.-134G>A	XP_005245627.1:n.-134G>A
XM_005245571.1:c.-130-4G>A	XP_005245628.1:n.-130-4G>A
XM_006711605.2:c.-93+284G>A	XP_006711668.1:n.-93+284G>A
XM_006711606.1:c.-93+312G>A	XP_006711669.1:n.-93+312G>A
XM_006711605.3:c.-93+284G>A	XP_006711668.1:n.-93+284G>A
XM_006711606.3:c.-93+312G>A	XP_006711669.1:n.-93+312G>A
XM_017002748.1:c.-130-4G>A	XP_016858237.1:n.-130-4G>A
XM_017002749.1:c.-134G>A	XP_016858238.1:n.-134G>A
XM_017002750.1:c.-130-4G>A	XP_016858239.1:n.-130-4G>A
NM_003929.3:c.-130-4G>A MANE Select	NP_003920.1:n.-130-4G>A
NM_001135662.2:c.-130-4G>A	NP_001129134.1:n.-130-4G>A
NM_001135663.2:c.-134G>A	NP_001129135.1:n.-134G>A
NM_001135664.2:c.-93+183G>A	NP_001129136.1:n.-93+183G>A