Canonical Allele Identifier: CA3873749

Gene: RAB23

Linked Data

• ClinVar Variation Id: 1099069
• ClinVar RCV Id: RCV001421260
• dbSNP Id: rs151203723
• ExAC: 6:57055379 A / C
• gnomAD v2: 6-57055379-A-C
• gnomAD v3: 6-57190581-A-C
• gnomAD v4: 6-57190581-A-C
• MyVariant Identifiers: chr6:g.57055379A>C (hg19) ; chr6:g.57190581A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57190581A>C , CM000668.2:g.57190581A>C	GRCh38
NC_000006.11:g.57055379A>C , CM000668.1:g.57055379A>C	GRCh37
NC_000006.10:g.57163338A>C	NCBI36
NG_012170.1:g.36700T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.594T>G MANE Select	ENSP00000417610.1:p.Gly198=
ENST00000317483.4:c.594T>G	ENSP00000320413.3:p.Gly198=
ENST00000468148.5:c.594T>G	ENSP00000417610.1:p.Gly198=
NM_001278666.1:c.594T>G	NP_001265595.1:p.Gly198=
NM_001278667.1:c.594T>G	NP_001265596.1:p.Gly198=
NM_001278668.1:c.594T>G	NP_001265597.1:p.Gly198=
NM_016277.4:c.594T>G	NP_057361.3:p.Gly198=
NM_183227.2:c.594T>G	NP_899050.1:p.Gly198=
NR_103822.1:n.453T>G
NM_016277.5:c.594T>G MANE Select	NP_057361.3:p.Gly198=
NM_001278666.2:c.594T>G	NP_001265595.1:p.Gly198=
NM_001278667.2:c.594T>G	NP_001265596.1:p.Gly198=
NM_001278668.2:c.594T>G	NP_001265597.1:p.Gly198=
NM_183227.3:c.594T>G	NP_899050.1:p.Gly198=
NR_103822.2:n.446T>G