Canonical Allele Identifier: CA5487529
Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs782274080
ExAC: 10:48389472 T / G
gnomAD v2: 10-48389472-T-G
gnomAD v4: 10-47349890-A-C
MyVariant Identifiers: chr10:g.48389472T>G (hg19) chr10:g.47349890A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349890A>C , CM000672.2:g.47349890A>C GRCh38
NC_000010.10:g.48389472T>G , CM000672.1:g.48389472T>G GRCh37
NC_000010.9:g.48009478T>G NCBI36
NG_029718.1:g.6520A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1406A>C MANE Select ENSP00000463151.1:p.Gln469Pro
ENST00000584701.1:c.1406A>C ENSP00000463151.1:p.Gln469Pro
NM_002900.2:c.1406A>C NP_002891.1:p.Gln469Pro
NM_002900.3:c.1406A>C MANE Select NP_002891.1:p.Gln469Pro
Search 100 bp 5'
Search 100 bp 3'