Canonical Allele Identifier: CA5487469

Gene: RBP3

Linked Data

• ClinVar Variation Id: 936198
• ClinVar RCV Id: RCV001204943
• dbSNP Id: rs140357670
• ExAC: 10:48389233 C / T
• gnomAD v2: 10-48389233-C-T
• gnomAD v3: 10-47350129-G-A
• gnomAD v4: 10-47350129-G-A
• MyVariant Identifiers: chr10:g.48389233C>T (hg19) ; chr10:g.47350129G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350129G>A , CM000672.2:g.47350129G>A	GRCh38
NC_000010.10:g.48389233C>T , CM000672.1:g.48389233C>T	GRCh37
NC_000010.9:g.48009239C>T	NCBI36
NG_029718.1:g.6759G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1645G>A MANE Select	ENSP00000463151.1:p.Ala549Thr
ENST00000584701.1:c.1645G>A	ENSP00000463151.1:p.Ala549Thr
NM_002900.2:c.1645G>A	NP_002891.1:p.Ala549Thr
NM_002900.3:c.1645G>A MANE Select	NP_002891.1:p.Ala549Thr