Canonical Allele Identifier: CA3873933
Gene: RAB23 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.57210356C>T
GRCh37 chr6:g.57075154C>T
Revel Score:
ENST00000317483 0.570
ENST00000468148 (MANE Select) 0.570
gnomAD v2:
6:57075154 C / T
gnomAD v3:
6:57210356 C / T
gnomAD v4:
chr6-57210356-C-T
Joint Max Group AF 0.00016562 (AFR)
Genomes Max Group AF 0.00026058 (AFR)
Exomes Max Group AF 0.00016299 (SAS)
ClinVar RCV:
RCV000638833
RCV002529883
ClinVar Variation:
532184
dbSNP:
150655349
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57210356C>T , CM000668.2:g.57210356C>T GRCh38
NC_000006.11:g.57075154C>T , CM000668.1:g.57075154C>T GRCh37
NC_000006.10:g.57183113C>T NCBI36
NG_012170.1:g.16925G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000468148.6:c.25G>A MANE Select ENSP00000417610.1:p.Ala9Thr
ENST00000317483.4:c.25G>A ENSP00000320413.3:p.Ala9Thr
ENST00000468148.5:c.25G>A ENSP00000417610.1:p.Ala9Thr
NM_001278666.1:c.25G>A NP_001265595.1:p.Ala9Thr
NM_001278667.1:c.25G>A NP_001265596.1:p.Ala9Thr
NM_001278668.1:c.25G>A NP_001265597.1:p.Ala9Thr
NM_016277.4:c.25G>A NP_057361.3:p.Ala9Thr
NM_183227.2:c.25G>A NP_899050.1:p.Ala9Thr
NR_103822.1:n.210G>A
XM_005249179.2:c.25G>A XP_005249236.1:p.Ala9Thr
NM_016277.5:c.25G>A MANE Select NP_057361.3:p.Ala9Thr
NM_001278666.2:c.25G>A NP_001265595.1:p.Ala9Thr
NM_001278667.2:c.25G>A NP_001265596.1:p.Ala9Thr
NM_001278668.2:c.25G>A NP_001265597.1:p.Ala9Thr
NM_183227.3:c.25G>A NP_899050.1:p.Ala9Thr
NR_103822.2:n.203G>A
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