Canonical Allele Identifier: CA7621571

Gene: RAB11A

Linked Data

• ClinVar Variation Id: 1594426
• ClinVar RCV Id: RCV002107812 ; RCV003913682
• dbSNP Id: rs11556462
• ExAC: 15:66170128 T / C
• gnomAD v2: 15-66170128-T-C
• gnomAD v3: 15-65877790-T-C
• gnomAD v4: 15-65877790-T-C
• MyVariant Identifiers: chr15:g.66170128T>C (hg19) ; chr15:g.65877790T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.65877790T>C , CM000677.2:g.65877790T>C	GRCh38
NC_000015.9:g.66170128T>C , CM000677.1:g.66170128T>C	GRCh37
NC_000015.8:g.63957182T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261890.7:c.265T>C MANE Select	ENSP00000261890.2:p.Leu89=
ENST00000261890.6:c.265T>C	ENSP00000261890.2:p.Leu89=
ENST00000564910.5:c.77-22T>C	ENSP00000455567.1:n.77-22T>C
ENST00000565075.5:c.265T>C	ENSP00000456638.1:p.Leu89=
ENST00000566233.5:c.265T>C	ENSP00000454381.1:p.Leu89=
ENST00000567671.1:c.-93T>C	ENSP00000454673.1:n.-93T>C
ENST00000568850.5:n.522T>C
ENST00000569304.1:n.125-9911T>C
ENST00000569896.1:c.265T>C	ENSP00000456420.1:p.Leu89=
NM_001206836.1:c.265T>C	NP_001193765.1:p.Leu89=
NM_004663.4:c.265T>C	NP_004654.1:p.Leu89=
NM_004663.5:c.265T>C MANE Select	NP_004654.1:p.Leu89=
NM_001206836.2:c.265T>C	NP_001193765.1:p.Leu89=