Canonical Allele Identifier: CA567544027

Gene: RAB23

Linked Data

• dbSNP Id: rs1200547119
• gnomAD v2: 6-57054861-A-G
• gnomAD v3: 6-57190063-A-G
• gnomAD v4: 6-57190063-A-G
• MyVariant Identifiers: chr6:g.57054861A>G (hg19) ; chr6:g.57190063A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190063A>G , CM000668.2:g.57190063A>G	GRCh38
NC_000006.11:g.57054861A>G , CM000668.1:g.57054861A>G	GRCh37
NC_000006.10:g.57162820A>G	NCBI36
NG_012170.1:g.37218T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.*398T>C MANE Select	ENSP00000417610.1:n.*398T>C
ENST00000317483.4:c.*398T>C	ENSP00000320413.3:n.*398T>C
ENST00000468148.5:c.*398T>C	ENSP00000417610.1:n.*398T>C
NM_001278666.1:c.*398T>C	NP_001265595.1:n.*398T>C
NM_001278667.1:c.*398T>C	NP_001265596.1:n.*398T>C
NM_001278668.1:c.*398T>C	NP_001265597.1:n.*398T>C
NM_016277.4:c.*398T>C	NP_057361.3:n.*398T>C
NM_183227.2:c.*398T>C	NP_899050.1:n.*398T>C
NR_103822.1:n.971T>C
NM_016277.5:c.*398T>C MANE Select	NP_057361.3:n.*398T>C
NM_001278666.2:c.*398T>C	NP_001265595.1:n.*398T>C
NM_001278667.2:c.*398T>C	NP_001265596.1:n.*398T>C
NM_001278668.2:c.*398T>C	NP_001265597.1:n.*398T>C
NM_183227.3:c.*398T>C	NP_899050.1:n.*398T>C
NR_103822.2:n.964T>C