Canonical Allele Identifier: CA3873836

Gene: RAB23

Linked Data

• ClinVar Variation Id: 357643
• ClinVar RCV Id: RCV000285069 ; RCV001451137 ; RCV003922580
• dbSNP Id: rs376839366
• ExAC: 6:57061239 C / T
• gnomAD v2: 6-57061239-C-T
• gnomAD v3: 6-57196441-C-T
• gnomAD v4: 6-57196441-C-T
• MyVariant Identifiers: chr6:g.57061239C>T (hg19) ; chr6:g.57196441C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57196441C>T , CM000668.2:g.57196441C>T	GRCh38
NC_000006.11:g.57061239C>T , CM000668.1:g.57061239C>T	GRCh37
NC_000006.10:g.57169198C>T	NCBI36
NG_012170.1:g.30840G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.398+9G>A MANE Select	ENSP00000417610.1:n.398+9G>A
ENST00000317483.4:c.398+9G>A	ENSP00000320413.3:n.398+9G>A
ENST00000468148.5:c.398+9G>A	ENSP00000417610.1:n.398+9G>A
NM_001278666.1:c.398+9G>A	NP_001265595.1:n.398+9G>A
NM_001278667.1:c.398+9G>A	NP_001265596.1:n.398+9G>A
NM_001278668.1:c.398+9G>A	NP_001265597.1:n.398+9G>A
NM_016277.4:c.398+9G>A	NP_057361.3:n.398+9G>A
NM_183227.2:c.398+9G>A	NP_899050.1:n.398+9G>A
NR_103822.1:n.341-2507G>A
XM_005249179.2:c.398+9G>A	XP_005249236.1:n.398+9G>A
NM_016277.5:c.398+9G>A MANE Select	NP_057361.3:n.398+9G>A
NM_001278666.2:c.398+9G>A	NP_001265595.1:n.398+9G>A
NM_001278667.2:c.398+9G>A	NP_001265596.1:n.398+9G>A
NM_001278668.2:c.398+9G>A	NP_001265597.1:n.398+9G>A
NM_183227.3:c.398+9G>A	NP_899050.1:n.398+9G>A
NR_103822.2:n.334-2507G>A