Canonical Allele Identifier: CA469781495
Gene: RBP3 HGNC NCBI

Linked Data

gnomAD v4: 10-47349916-C-T
MyVariant Identifiers: chr10:g.48389446G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349916C>T , CM000672.2:g.47349916C>T GRCh38
NC_000010.10:g.48389446G>A , CM000672.1:g.48389446G>A GRCh37
NC_000010.9:g.48009452G>A NCBI36
NG_029718.1:g.6546C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1432C>T MANE Select ENSP00000463151.1:p.Leu478=
ENST00000584701.1:c.1432C>T ENSP00000463151.1:p.Leu478=
NM_002900.2:c.1432C>T NP_002891.1:p.Leu478=
NM_002900.3:c.1432C>T MANE Select NP_002891.1:p.Leu478=
Search 100 bp 5'
Search 100 bp 3'