Canonical Allele Identifier: CA2679243950

Gene: RAB23

Linked Data

• gnomAD v4: 6-57190114-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190114C>T , CM000668.2:g.57190114C>T	GRCh38
NC_000006.11:g.57054912C>T , CM000668.1:g.57054912C>T	GRCh37
NC_000006.10:g.57162871C>T	NCBI36
NG_012170.1:g.37167G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.*347G>A MANE Select	ENSP00000417610.1:n.*347G>A
ENST00000317483.4:c.*347G>A	ENSP00000320413.3:n.*347G>A
ENST00000468148.5:c.*347G>A	ENSP00000417610.1:n.*347G>A
NM_001278666.1:c.*347G>A	NP_001265595.1:n.*347G>A
NM_001278667.1:c.*347G>A	NP_001265596.1:n.*347G>A
NM_001278668.1:c.*347G>A	NP_001265597.1:n.*347G>A
NM_016277.4:c.*347G>A	NP_057361.3:n.*347G>A
NM_183227.2:c.*347G>A	NP_899050.1:n.*347G>A
NR_103822.1:n.920G>A
NM_016277.5:c.*347G>A MANE Select	NP_057361.3:n.*347G>A
NM_001278666.2:c.*347G>A	NP_001265595.1:n.*347G>A
NM_001278667.2:c.*347G>A	NP_001265596.1:n.*347G>A
NM_001278668.2:c.*347G>A	NP_001265597.1:n.*347G>A
NM_183227.3:c.*347G>A	NP_899050.1:n.*347G>A
NR_103822.2:n.913G>A