Canonical Allele Identifier: CA10624468

Gene: RAB23

Linked Data

• ClinVar Variation Id: 357637
• ClinVar RCV Id: RCV000273177
• dbSNP Id: rs1411578
• gnomAD v2: 6-57054843-C-G
• gnomAD v3: 6-57190045-C-G
• gnomAD v4: 6-57190045-C-G
• MyVariant Identifiers: chr6:g.57054843C>G (hg19) ; chr6:g.57190045C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190045C>G , CM000668.2:g.57190045C>G	GRCh38
NC_000006.11:g.57054843C>G , CM000668.1:g.57054843C>G	GRCh37
NC_000006.10:g.57162802C>G	NCBI36
NG_012170.1:g.37236G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000468148.6:c.*416G>C MANE Select	ENSP00000417610.1:n.*416G>C
ENST00000317483.4:c.*416G>C	ENSP00000320413.3:n.*416G>C
ENST00000468148.5:c.*416G>C	ENSP00000417610.1:n.*416G>C
NM_001278666.1:c.*416G>C	NP_001265595.1:n.*416G>C
NM_001278667.1:c.*416G>C	NP_001265596.1:n.*416G>C
NM_001278668.1:c.*416G>C	NP_001265597.1:n.*416G>C
NM_016277.4:c.*416G>C	NP_057361.3:n.*416G>C
NM_183227.2:c.*416G>C	NP_899050.1:n.*416G>C
NR_103822.1:n.989G>C
NM_016277.5:c.*416G>C MANE Select	NP_057361.3:n.*416G>C
NM_001278666.2:c.*416G>C	NP_001265595.1:n.*416G>C
NM_001278667.2:c.*416G>C	NP_001265596.1:n.*416G>C
NM_001278668.2:c.*416G>C	NP_001265597.1:n.*416G>C
NM_183227.3:c.*416G>C	NP_899050.1:n.*416G>C
NR_103822.2:n.982G>C