Canonical Allele Identifier: CA2679244936
Gene: RAB23 HGNC NCBI
ClinVar RCV:
ClinVar Variation:

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57193944A>G , CM000668.2:g.57193944A>G GRCh38
NC_000006.11:g.57058742A>G , CM000668.1:g.57058742A>G GRCh37
NC_000006.10:g.57166701A>G NCBI36
NG_012170.1:g.33337T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000468148.6:c.482-10T>C MANE Select ENSP00000417610.1:n.482-10T>C
ENST00000317483.4:c.482-10T>C ENSP00000320413.3:n.482-10T>C
ENST00000468148.5:c.482-10T>C ENSP00000417610.1:n.482-10T>C
NM_001278666.1:c.482-10T>C NP_001265595.1:n.482-10T>C
NM_001278667.1:c.482-10T>C NP_001265596.1:n.482-10T>C
NM_001278668.1:c.482-10T>C NP_001265597.1:n.482-10T>C
NM_016277.4:c.482-10T>C NP_057361.3:n.482-10T>C
NM_183227.2:c.482-10T>C NP_899050.1:n.482-10T>C
NR_103822.1:n.341-10T>C
XM_005249179.2:c.399-10T>C XP_005249236.1:n.399-10T>C
NM_016277.5:c.482-10T>C MANE Select NP_057361.3:n.482-10T>C
NM_001278666.2:c.482-10T>C NP_001265595.1:n.482-10T>C
NM_001278667.2:c.482-10T>C NP_001265596.1:n.482-10T>C
NM_001278668.2:c.482-10T>C NP_001265597.1:n.482-10T>C
NM_183227.3:c.482-10T>C NP_899050.1:n.482-10T>C
NR_103822.2:n.334-10T>C