Canonical Allele Identifier: CA2679243919

Gene: RAB23

Linked Data

• gnomAD v4: 6-57190068-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190068A>G , CM000668.2:g.57190068A>G	GRCh38
NC_000006.11:g.57054866A>G , CM000668.1:g.57054866A>G	GRCh37
NC_000006.10:g.57162825A>G	NCBI36
NG_012170.1:g.37213T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.*393T>C MANE Select	ENSP00000417610.1:n.*393T>C
ENST00000317483.4:c.*393T>C	ENSP00000320413.3:n.*393T>C
ENST00000468148.5:c.*393T>C	ENSP00000417610.1:n.*393T>C
NM_001278666.1:c.*393T>C	NP_001265595.1:n.*393T>C
NM_001278667.1:c.*393T>C	NP_001265596.1:n.*393T>C
NM_001278668.1:c.*393T>C	NP_001265597.1:n.*393T>C
NM_016277.4:c.*393T>C	NP_057361.3:n.*393T>C
NM_183227.2:c.*393T>C	NP_899050.1:n.*393T>C
NR_103822.1:n.966T>C
NM_016277.5:c.*393T>C MANE Select	NP_057361.3:n.*393T>C
NM_001278666.2:c.*393T>C	NP_001265595.1:n.*393T>C
NM_001278667.2:c.*393T>C	NP_001265596.1:n.*393T>C
NM_001278668.2:c.*393T>C	NP_001265597.1:n.*393T>C
NM_183227.3:c.*393T>C	NP_899050.1:n.*393T>C
NR_103822.2:n.959T>C