Canonical Allele Identifier: CA2679243931
Gene: RAB23 HGNC NCBI

Linked Data

gnomAD v4: 6-57190081-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57190081C>A , CM000668.2:g.57190081C>A GRCh38
NC_000006.11:g.57054879C>A , CM000668.1:g.57054879C>A GRCh37
NC_000006.10:g.57162838C>A NCBI36
NG_012170.1:g.37200G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000468148.6:c.*380G>T MANE Select ENSP00000417610.1:n.*380G>T
ENST00000317483.4:c.*380G>T ENSP00000320413.3:n.*380G>T
ENST00000468148.5:c.*380G>T ENSP00000417610.1:n.*380G>T
NM_001278666.1:c.*380G>T NP_001265595.1:n.*380G>T
NM_001278667.1:c.*380G>T NP_001265596.1:n.*380G>T
NM_001278668.1:c.*380G>T NP_001265597.1:n.*380G>T
NM_016277.4:c.*380G>T NP_057361.3:n.*380G>T
NM_183227.2:c.*380G>T NP_899050.1:n.*380G>T
NR_103822.1:n.953G>T
NM_016277.5:c.*380G>T MANE Select NP_057361.3:n.*380G>T
NM_001278666.2:c.*380G>T NP_001265595.1:n.*380G>T
NM_001278667.2:c.*380G>T NP_001265596.1:n.*380G>T
NM_001278668.2:c.*380G>T NP_001265597.1:n.*380G>T
NM_183227.3:c.*380G>T NP_899050.1:n.*380G>T
NR_103822.2:n.946G>T