Canonical Allele Identifier: CA2679243905
Gene: RAB23 HGNC NCBI

Linked Data

gnomAD v4: 6-57190051-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.57190051T>C , CM000668.2:g.57190051T>C GRCh38
NC_000006.11:g.57054849T>C , CM000668.1:g.57054849T>C GRCh37
NC_000006.10:g.57162808T>C NCBI36
NG_012170.1:g.37230A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000468148.6:c.*410A>G MANE Select ENSP00000417610.1:n.*410A>G
ENST00000317483.4:c.*410A>G ENSP00000320413.3:n.*410A>G
ENST00000468148.5:c.*410A>G ENSP00000417610.1:n.*410A>G
NM_001278666.1:c.*410A>G NP_001265595.1:n.*410A>G
NM_001278667.1:c.*410A>G NP_001265596.1:n.*410A>G
NM_001278668.1:c.*410A>G NP_001265597.1:n.*410A>G
NM_016277.4:c.*410A>G NP_057361.3:n.*410A>G
NM_183227.2:c.*410A>G NP_899050.1:n.*410A>G
NR_103822.1:n.983A>G
NM_016277.5:c.*410A>G MANE Select NP_057361.3:n.*410A>G
NM_001278666.2:c.*410A>G NP_001265595.1:n.*410A>G
NM_001278667.2:c.*410A>G NP_001265596.1:n.*410A>G
NM_001278668.2:c.*410A>G NP_001265597.1:n.*410A>G
NM_183227.3:c.*410A>G NP_899050.1:n.*410A>G
NR_103822.2:n.976A>G