Canonical Allele Identifier: CA344701

Gene: RBP3

Linked Data

• ClinVar Variation Id: 50368
• ClinVar RCV Id: RCV000043517 ; RCV001852909
• dbSNP Id: rs146150511
• gnomAD v2: 10-48385854-C-T
• gnomAD v3: 10-47353508-G-A
• gnomAD v4: 10-47353508-G-A
• MyVariant Identifiers: chr10:g.48385854C>T (hg19) ; chr10:g.47353508G>A (hg38)
• PubMed: PMID:19074801 ; PMID:23486466

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47353508G>A , CM000672.2:g.47353508G>A	GRCh38
NC_000010.10:g.48385854C>T , CM000672.1:g.48385854C>T	GRCh37
NC_000010.9:g.48005860C>T	NCBI36
NG_029718.1:g.10138G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.3238G>A MANE Select	ENSP00000463151.1:p.Asp1080Asn
ENST00000584701.1:c.3238G>A	ENSP00000463151.1:p.Asp1080Asn
NM_002900.2:c.3238G>A	NP_002891.1:p.Asp1080Asn
NM_002900.3:c.3238G>A MANE Select	NP_002891.1:p.Asp1080Asn