Canonical Allele Identifier: CA139736108

Gene: RAB23

Linked Data

• dbSNP Id: rs1009844601
• gnomAD v4: 6-57190057-G-A
• MyVariant Identifiers: chr6:g.57054855G>A (hg19) ; chr6:g.57190057G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190057G>A , CM000668.2:g.57190057G>A	GRCh38
NC_000006.11:g.57054855G>A , CM000668.1:g.57054855G>A	GRCh37
NC_000006.10:g.57162814G>A	NCBI36
NG_012170.1:g.37224C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.*404C>T MANE Select	ENSP00000417610.1:n.*404C>T
ENST00000317483.4:c.*404C>T	ENSP00000320413.3:n.*404C>T
ENST00000468148.5:c.*404C>T	ENSP00000417610.1:n.*404C>T
NM_001278666.1:c.*404C>T	NP_001265595.1:n.*404C>T
NM_001278667.1:c.*404C>T	NP_001265596.1:n.*404C>T
NM_001278668.1:c.*404C>T	NP_001265597.1:n.*404C>T
NM_016277.4:c.*404C>T	NP_057361.3:n.*404C>T
NM_183227.2:c.*404C>T	NP_899050.1:n.*404C>T
NR_103822.1:n.977C>T
NM_016277.5:c.*404C>T MANE Select	NP_057361.3:n.*404C>T
NM_001278666.2:c.*404C>T	NP_001265595.1:n.*404C>T
NM_001278667.2:c.*404C>T	NP_001265596.1:n.*404C>T
NM_001278668.2:c.*404C>T	NP_001265597.1:n.*404C>T
NM_183227.3:c.*404C>T	NP_899050.1:n.*404C>T
NR_103822.2:n.970C>T