Canonical Allele Identifier: CA2679243875
Gene: RAB23 HGNC NCBI

Linked Data

gnomAD v4: 6-57190020-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57190020A>G , CM000668.2:g.57190020A>G GRCh38
NC_000006.11:g.57054818A>G , CM000668.1:g.57054818A>G GRCh37
NC_000006.10:g.57162777A>G NCBI36
NG_012170.1:g.37261T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000468148.6:c.*441T>C MANE Select ENSP00000417610.1:n.*441T>C
ENST00000317483.4:c.*441T>C ENSP00000320413.3:n.*441T>C
ENST00000468148.5:c.*441T>C ENSP00000417610.1:n.*441T>C
NM_001278666.1:c.*441T>C NP_001265595.1:n.*441T>C
NM_001278667.1:c.*441T>C NP_001265596.1:n.*441T>C
NM_001278668.1:c.*441T>C NP_001265597.1:n.*441T>C
NM_016277.4:c.*441T>C NP_057361.3:n.*441T>C
NM_183227.2:c.*441T>C NP_899050.1:n.*441T>C
NR_103822.1:n.1014T>C
NM_016277.5:c.*441T>C MANE Select NP_057361.3:n.*441T>C
NM_001278666.2:c.*441T>C NP_001265595.1:n.*441T>C
NM_001278667.2:c.*441T>C NP_001265596.1:n.*441T>C
NM_001278668.2:c.*441T>C NP_001265597.1:n.*441T>C
NM_183227.3:c.*441T>C NP_899050.1:n.*441T>C
NR_103822.2:n.1007T>C