Canonical Allele Identifier: CA1630424378
Gene: RAB23 HGNC NCBI

Linked Data

dbSNP Id: rs1593203584
gnomAD v3: 6-57190157-A-T
gnomAD v4: 6-57190157-A-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57190157A>T , CM000668.2:g.57190157A>T GRCh38
NC_000006.11:g.57054955A>T , CM000668.1:g.57054955A>T GRCh37
NC_000006.10:g.57162914A>T NCBI36
NG_012170.1:g.37124T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000468148.6:c.*304T>A MANE Select ENSP00000417610.1:n.*304T>A
ENST00000317483.4:c.*304T>A ENSP00000320413.3:n.*304T>A
ENST00000468148.5:c.*304T>A ENSP00000417610.1:n.*304T>A
NM_001278666.1:c.*304T>A NP_001265595.1:n.*304T>A
NM_001278667.1:c.*304T>A NP_001265596.1:n.*304T>A
NM_001278668.1:c.*304T>A NP_001265597.1:n.*304T>A
NM_016277.4:c.*304T>A NP_057361.3:n.*304T>A
NM_183227.2:c.*304T>A NP_899050.1:n.*304T>A
NR_103822.1:n.877T>A
NM_016277.5:c.*304T>A MANE Select NP_057361.3:n.*304T>A
NM_001278666.2:c.*304T>A NP_001265595.1:n.*304T>A
NM_001278667.2:c.*304T>A NP_001265596.1:n.*304T>A
NM_001278668.2:c.*304T>A NP_001265597.1:n.*304T>A
NM_183227.3:c.*304T>A NP_899050.1:n.*304T>A
NR_103822.2:n.870T>A