Canonical Allele Identifier: CA469781519
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 736687
ClinVar RCV Id: RCV000912362
dbSNP Id: rs1588862330
MyVariant Identifiers: chr10:g.48389414A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349948T>C , CM000672.2:g.47349948T>C GRCh38
NC_000010.10:g.48389414A>G , CM000672.1:g.48389414A>G GRCh37
NC_000010.9:g.48009420A>G NCBI36
NG_029718.1:g.6578T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1464T>C MANE Select ENSP00000463151.1:p.Ala488=
ENST00000584701.1:c.1464T>C ENSP00000463151.1:p.Ala488=
NM_002900.2:c.1464T>C NP_002891.1:p.Ala488=
NM_002900.3:c.1464T>C MANE Select NP_002891.1:p.Ala488=
Search 100 bp 5'
Search 100 bp 3'