Canonical Allele Identifier: CA469781529
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1105109
ClinVar RCV Id: RCV001429376
dbSNP Id: rs2132253832
MyVariant Identifiers: chr10:g.48389399C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349963G>A , CM000672.2:g.47349963G>A GRCh38
NC_000010.10:g.48389399C>T , CM000672.1:g.48389399C>T GRCh37
NC_000010.9:g.48009405C>T NCBI36
NG_029718.1:g.6593G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1479G>A MANE Select ENSP00000463151.1:p.Leu493=
ENST00000584701.1:c.1479G>A ENSP00000463151.1:p.Leu493=
NM_002900.2:c.1479G>A NP_002891.1:p.Leu493=
NM_002900.3:c.1479G>A MANE Select NP_002891.1:p.Leu493=
Search 100 bp 5'
Search 100 bp 3'