Canonical Allele Identifier: CA376670264
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1954135
ClinVar RCV Id: RCV002705380
dbSNP Id: rs563600593
MyVariant Identifiers: chr10:g.48389325T>G (hg19) chr10:g.47350037A>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350037A>C , CM000672.2:g.47350037A>C GRCh38
NC_000010.10:g.48389325T>G , CM000672.1:g.48389325T>G GRCh37
NC_000010.9:g.48009331T>G NCBI36
NG_029718.1:g.6667A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1553A>C MANE Select ENSP00000463151.1:p.Gln518Pro
ENST00000584701.1:c.1553A>C ENSP00000463151.1:p.Gln518Pro
NM_002900.2:c.1553A>C NP_002891.1:p.Gln518Pro
NM_002900.3:c.1553A>C MANE Select NP_002891.1:p.Gln518Pro
Search 100 bp 5'
Search 100 bp 3'