Canonical Allele Identifier: CA364626063

Gene: RAB23

Linked Data

• ClinVar Variation Id: 2120775
• ClinVar RCV Id: RCV003039548
• MyVariant Identifiers: chr6:g.57059567C>T (hg19) ; chr6:g.57194769C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57194769C>T , CM000668.2:g.57194769C>T	GRCh38
NC_000006.11:g.57059567C>T , CM000668.1:g.57059567C>T	GRCh37
NC_000006.10:g.57167526C>T	NCBI36
NG_012170.1:g.32512G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.481+1G>A MANE Select	ENSP00000417610.1:n.481+1G>A
ENST00000317483.4:c.481+1G>A	ENSP00000320413.3:n.481+1G>A
ENST00000468148.5:c.481+1G>A	ENSP00000417610.1:n.481+1G>A
NM_001278666.1:c.481+1G>A	NP_001265595.1:n.481+1G>A
NM_001278667.1:c.481+1G>A	NP_001265596.1:n.481+1G>A
NM_001278668.1:c.481+1G>A	NP_001265597.1:n.481+1G>A
NM_016277.4:c.481+1G>A	NP_057361.3:n.481+1G>A
NM_183227.2:c.481+1G>A	NP_899050.1:n.481+1G>A
NR_103822.1:n.341-835G>A
XM_005249179.2:c.399-835G>A	XP_005249236.1:n.399-835G>A
NM_016277.5:c.481+1G>A MANE Select	NP_057361.3:n.481+1G>A
NM_001278666.2:c.481+1G>A	NP_001265595.1:n.481+1G>A
NM_001278667.2:c.481+1G>A	NP_001265596.1:n.481+1G>A
NM_001278668.2:c.481+1G>A	NP_001265597.1:n.481+1G>A
NM_183227.3:c.481+1G>A	NP_899050.1:n.481+1G>A
NR_103822.2:n.334-835G>A