Canonical Allele Identifier: CA3873782

Gene: RAB23

Linked Data

• ClinVar Variation Id: 357642
• ClinVar RCV Id: RCV000379503 ; RCV001095268 ; RCV003409557 ; RCV004022031
• dbSNP Id: rs150440590
• ExAC: 6:57058678 T / G
• gnomAD v2: 6-57058678-T-G
• gnomAD v3: 6-57193880-T-G
• gnomAD v4: 6-57193880-T-G
• MyVariant Identifiers: chr6:g.57058678T>G (hg19) ; chr6:g.57193880T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57193880T>G , CM000668.2:g.57193880T>G	GRCh38
NC_000006.11:g.57058678T>G , CM000668.1:g.57058678T>G	GRCh37
NC_000006.10:g.57166637T>G	NCBI36
NG_012170.1:g.33401A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.536A>C MANE Select	ENSP00000417610.1:p.Glu179Ala
ENST00000317483.4:c.536A>C	ENSP00000320413.3:p.Glu179Ala
ENST00000468148.5:c.536A>C	ENSP00000417610.1:p.Glu179Ala
NM_001278666.1:c.536A>C	NP_001265595.1:p.Glu179Ala
NM_001278667.1:c.536A>C	NP_001265596.1:p.Glu179Ala
NM_001278668.1:c.536A>C	NP_001265597.1:p.Glu179Ala
NM_016277.4:c.536A>C	NP_057361.3:p.Glu179Ala
NM_183227.2:c.536A>C	NP_899050.1:p.Glu179Ala
NR_103822.1:n.395A>C
XM_005249179.2:c.*48A>C	XP_005249236.1:n.*48A>C
NM_016277.5:c.536A>C MANE Select	NP_057361.3:p.Glu179Ala
NM_001278666.2:c.536A>C	NP_001265595.1:p.Glu179Ala
NM_001278667.2:c.536A>C	NP_001265596.1:p.Glu179Ala
NM_001278668.2:c.536A>C	NP_001265597.1:p.Glu179Ala
NM_183227.3:c.536A>C	NP_899050.1:p.Glu179Ala
NR_103822.2:n.388A>C