Canonical Allele Identifier: CA139736110

Gene: RAB23

Linked Data

• dbSNP Id: rs541192523
• gnomAD v3: 6-57190084-G-A
• gnomAD v4: 6-57190084-G-A
• MyVariant Identifiers: chr6:g.57054882G>A (hg19) ; chr6:g.57190084G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190084G>A , CM000668.2:g.57190084G>A	GRCh38
NC_000006.11:g.57054882G>A , CM000668.1:g.57054882G>A	GRCh37
NC_000006.10:g.57162841G>A	NCBI36
NG_012170.1:g.37197C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.*377C>T MANE Select	ENSP00000417610.1:n.*377C>T
ENST00000317483.4:c.*377C>T	ENSP00000320413.3:n.*377C>T
ENST00000468148.5:c.*377C>T	ENSP00000417610.1:n.*377C>T
NM_001278666.1:c.*377C>T	NP_001265595.1:n.*377C>T
NM_001278667.1:c.*377C>T	NP_001265596.1:n.*377C>T
NM_001278668.1:c.*377C>T	NP_001265597.1:n.*377C>T
NM_016277.4:c.*377C>T	NP_057361.3:n.*377C>T
NM_183227.2:c.*377C>T	NP_899050.1:n.*377C>T
NR_103822.1:n.950C>T
NM_016277.5:c.*377C>T MANE Select	NP_057361.3:n.*377C>T
NM_001278666.2:c.*377C>T	NP_001265595.1:n.*377C>T
NM_001278667.2:c.*377C>T	NP_001265596.1:n.*377C>T
NM_001278668.2:c.*377C>T	NP_001265597.1:n.*377C>T
NM_183227.3:c.*377C>T	NP_899050.1:n.*377C>T
NR_103822.2:n.943C>T