Canonical Allele Identifier: CA116937

Gene: RAB23

Linked Data

• ClinVar Variation Id: 4591
• ClinVar RCV Id: RCV000004853 ; RCV000407501 ; RCV000622686 ; RCV000791402 ; RCV003415654
• dbSNP Id: rs121908171
• ExAC: 6:57059615 A / T
• gnomAD v2: 6-57059615-A-T
• gnomAD v3: 6-57194817-A-T
• gnomAD v4: 6-57194817-A-T
• MyVariant Identifiers: chr6:g.57059615A>T (hg19) ; chr6:g.57194817A>T (hg38)
• PubMed: PMID:3322002 ; PMID:3993675 ; PMID:15129947 ; PMID:17503333 ; PMID:20358613 ; PMID:21412941 ; PMID:25168863

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.57194817A>T , CM000668.2:g.57194817A>T	GRCh38
NC_000006.11:g.57059615A>T , CM000668.1:g.57059615A>T	GRCh37
NC_000006.10:g.57167574A>T	NCBI36
NG_012170.1:g.32464T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000468148.6:c.434T>A MANE Select	ENSP00000417610.1:p.Leu145Ter
ENST00000317483.4:c.434T>A	ENSP00000320413.3:p.Leu145Ter
ENST00000468148.5:c.434T>A	ENSP00000417610.1:p.Leu145Ter
NM_001278666.1:c.434T>A	NP_001265595.1:p.Leu145Ter
NM_001278667.1:c.434T>A	NP_001265596.1:p.Leu145Ter
NM_001278668.1:c.434T>A	NP_001265597.1:p.Leu145Ter
NM_016277.4:c.434T>A	NP_057361.3:p.Leu145Ter
NM_183227.2:c.434T>A	NP_899050.1:p.Leu145Ter
NR_103822.1:n.341-883T>A
XM_005249179.2:c.399-883T>A	XP_005249236.1:n.399-883T>A
NM_016277.5:c.434T>A MANE Select	NP_057361.3:p.Leu145Ter
NM_001278666.2:c.434T>A	NP_001265595.1:p.Leu145Ter
NM_001278667.2:c.434T>A	NP_001265596.1:p.Leu145Ter
NM_001278668.2:c.434T>A	NP_001265597.1:p.Leu145Ter
NM_183227.3:c.434T>A	NP_899050.1:p.Leu145Ter
NR_103822.2:n.334-883T>A