Canonical Allele Identifier: CA376671213
Gene: RBP3 HGNC NCBI

Linked Data

gnomAD v4: 10-47350152-G-A
MyVariant Identifiers: chr10:g.48389210C>T (hg19) chr10:g.47350152G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350152G>A , CM000672.2:g.47350152G>A GRCh38
NC_000010.10:g.48389210C>T , CM000672.1:g.48389210C>T GRCh37
NC_000010.9:g.48009216C>T NCBI36
NG_029718.1:g.6782G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1668G>A MANE Select ENSP00000463151.1:p.Met556Ile
ENST00000584701.1:c.1668G>A ENSP00000463151.1:p.Met556Ile
NM_002900.2:c.1668G>A NP_002891.1:p.Met556Ile
NM_002900.3:c.1668G>A MANE Select NP_002891.1:p.Met556Ile
Search 100 bp 5'
Search 100 bp 3'