Canonical Allele Identifier: CA139736107
Gene: RAB23 HGNC NCBI

Linked Data

dbSNP Id: rs577095908
gnomAD v2: 6-57054854-C-T
gnomAD v3: 6-57190056-C-T
gnomAD v4: 6-57190056-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57190056C>T , CM000668.2:g.57190056C>T GRCh38
NC_000006.11:g.57054854C>T , CM000668.1:g.57054854C>T GRCh37
NC_000006.10:g.57162813C>T NCBI36
NG_012170.1:g.37225G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000468148.6:c.*405G>A MANE Select ENSP00000417610.1:n.*405G>A
ENST00000317483.4:c.*405G>A ENSP00000320413.3:n.*405G>A
ENST00000468148.5:c.*405G>A ENSP00000417610.1:n.*405G>A
NM_001278666.1:c.*405G>A NP_001265595.1:n.*405G>A
NM_001278667.1:c.*405G>A NP_001265596.1:n.*405G>A
NM_001278668.1:c.*405G>A NP_001265597.1:n.*405G>A
NM_016277.4:c.*405G>A NP_057361.3:n.*405G>A
NM_183227.2:c.*405G>A NP_899050.1:n.*405G>A
NR_103822.1:n.978G>A
NM_016277.5:c.*405G>A MANE Select NP_057361.3:n.*405G>A
NM_001278666.2:c.*405G>A NP_001265595.1:n.*405G>A
NM_001278667.2:c.*405G>A NP_001265596.1:n.*405G>A
NM_001278668.2:c.*405G>A NP_001265597.1:n.*405G>A
NM_183227.3:c.*405G>A NP_899050.1:n.*405G>A
NR_103822.2:n.971G>A