Canonical Allele Identifier: CA1089351104

Gene: RAB23

Linked Data

• dbSNP Id: rs1764956138
• gnomAD v3: 6-57194698-T-C
• gnomAD v4: 6-57194698-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57194698T>C , CM000668.2:g.57194698T>C	GRCh38
NC_000006.11:g.57059496T>C , CM000668.1:g.57059496T>C	GRCh37
NC_000006.10:g.57167455T>C	NCBI36
NG_012170.1:g.32583A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000468148.6:c.481+72A>G MANE Select	ENSP00000417610.1:n.481+72A>G
ENST00000317483.4:c.481+72A>G	ENSP00000320413.3:n.481+72A>G
ENST00000468148.5:c.481+72A>G	ENSP00000417610.1:n.481+72A>G
NM_001278666.1:c.481+72A>G	NP_001265595.1:n.481+72A>G
NM_001278667.1:c.481+72A>G	NP_001265596.1:n.481+72A>G
NM_001278668.1:c.481+72A>G	NP_001265597.1:n.481+72A>G
NM_016277.4:c.481+72A>G	NP_057361.3:n.481+72A>G
NM_183227.2:c.481+72A>G	NP_899050.1:n.481+72A>G
NR_103822.1:n.341-764A>G
XM_005249179.2:c.399-764A>G	XP_005249236.1:n.399-764A>G
NM_016277.5:c.481+72A>G MANE Select	NP_057361.3:n.481+72A>G
NM_001278666.2:c.481+72A>G	NP_001265595.1:n.481+72A>G
NM_001278667.2:c.481+72A>G	NP_001265596.1:n.481+72A>G
NM_001278668.2:c.481+72A>G	NP_001265597.1:n.481+72A>G
NM_183227.3:c.481+72A>G	NP_899050.1:n.481+72A>G
NR_103822.2:n.334-764A>G