Canonical Allele Identifier: CA2679243928
Gene: RAB23 HGNC NCBI

Linked Data

gnomAD v4: 6-57190076-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57190076A>G , CM000668.2:g.57190076A>G GRCh38
NC_000006.11:g.57054874A>G , CM000668.1:g.57054874A>G GRCh37
NC_000006.10:g.57162833A>G NCBI36
NG_012170.1:g.37205T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000468148.6:c.*385T>C MANE Select ENSP00000417610.1:n.*385T>C
ENST00000317483.4:c.*385T>C ENSP00000320413.3:n.*385T>C
ENST00000468148.5:c.*385T>C ENSP00000417610.1:n.*385T>C
NM_001278666.1:c.*385T>C NP_001265595.1:n.*385T>C
NM_001278667.1:c.*385T>C NP_001265596.1:n.*385T>C
NM_001278668.1:c.*385T>C NP_001265597.1:n.*385T>C
NM_016277.4:c.*385T>C NP_057361.3:n.*385T>C
NM_183227.2:c.*385T>C NP_899050.1:n.*385T>C
NR_103822.1:n.958T>C
NM_016277.5:c.*385T>C MANE Select NP_057361.3:n.*385T>C
NM_001278666.2:c.*385T>C NP_001265595.1:n.*385T>C
NM_001278667.2:c.*385T>C NP_001265596.1:n.*385T>C
NM_001278668.2:c.*385T>C NP_001265597.1:n.*385T>C
NM_183227.3:c.*385T>C NP_899050.1:n.*385T>C
NR_103822.2:n.951T>C