Canonical Allele Identifier: CA206464210
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1069188
ClinVar RCV Id: RCV001380956
dbSNP Id: rs150902800
gnomAD v4: 10-47350558-G-T
MyVariant Identifiers: chr10:g.48388804C>A (hg19) chr10:g.47350558G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350558G>T , CM000672.2:g.47350558G>T GRCh38
NC_000010.10:g.48388804C>A , CM000672.1:g.48388804C>A GRCh37
NC_000010.9:g.48008810C>A NCBI36
NG_029718.1:g.7188G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2074G>T MANE Select ENSP00000463151.1:p.Glu692Ter
ENST00000584701.1:c.2074G>T ENSP00000463151.1:p.Glu692Ter
NM_002900.2:c.2074G>T NP_002891.1:p.Glu692Ter
NM_002900.3:c.2074G>T MANE Select NP_002891.1:p.Glu692Ter
Search 100 bp 5'
Search 100 bp 3'