Canonical Allele Identifier: CA376671974
Gene: RBP3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1416076
ClinVar RCV Id: RCV001921154
dbSNP Id: rs2132254567

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47350531G>A , CM000672.2:g.47350531G>A GRCh38
NC_000010.10:g.48388831C>T , CM000672.1:g.48388831C>T GRCh37
NC_000010.9:g.48008837C>T NCBI36
NG_029718.1:g.7161G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.2047G>A MANE Select ENSP00000463151.1:p.Ala683Thr
ENST00000584701.1:c.2047G>A ENSP00000463151.1:p.Ala683Thr
NM_002900.2:c.2047G>A NP_002891.1:p.Ala683Thr
NM_002900.3:c.2047G>A MANE Select NP_002891.1:p.Ala683Thr