Canonical Allele Identifier: CA206461839
Gene: RBP3 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.47349907A>C , CM000672.2:g.47349907A>C GRCh38
NC_000010.10:g.48389455T>G , CM000672.1:g.48389455T>G GRCh37
NC_000010.9:g.48009461T>G NCBI36
NG_029718.1:g.6537A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000584701.2:c.1423A>C MANE Select ENSP00000463151.1:p.Ile475Leu
ENST00000584701.1:c.1423A>C ENSP00000463151.1:p.Ile475Leu
NM_002900.2:c.1423A>C NP_002891.1:p.Ile475Leu
NM_002900.3:c.1423A>C MANE Select NP_002891.1:p.Ile475Leu