Canonical Allele Identifier: CA469781563
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1571298
ClinVar RCV Id: RCV002217608
dbSNP Id: rs542785499
gnomAD v4: 10-47350011-C-T
MyVariant Identifiers: chr10:g.48389351G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350011C>T , CM000672.2:g.47350011C>T GRCh38
NC_000010.10:g.48389351G>A , CM000672.1:g.48389351G>A GRCh37
NC_000010.9:g.48009357G>A NCBI36
NG_029718.1:g.6641C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1527C>T MANE Select ENSP00000463151.1:p.Thr509=
ENST00000584701.1:c.1527C>T ENSP00000463151.1:p.Thr509=
NM_002900.2:c.1527C>T NP_002891.1:p.Thr509=
NM_002900.3:c.1527C>T MANE Select NP_002891.1:p.Thr509=
Search 100 bp 5'
Search 100 bp 3'