Canonical Allele Identifier: CA376671915

Gene: RBP3

Linked Data

• ClinVar Variation Id: 1959438
• ClinVar RCV Id: RCV002701278
• dbSNP Id: rs1158993702
• gnomAD v2: 10-48388864-C-T
• gnomAD v3: 10-47350498-G-A
• gnomAD v4: 10-47350498-G-A
• MyVariant Identifiers: chr10:g.48388864C>T (hg19) ; chr10:g.47350498G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350498G>A , CM000672.2:g.47350498G>A	GRCh38
NC_000010.10:g.48388864C>T , CM000672.1:g.48388864C>T	GRCh37
NC_000010.9:g.48008870C>T	NCBI36
NG_029718.1:g.7128G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.2014G>A MANE Select	ENSP00000463151.1:p.Ala672Thr
ENST00000584701.1:c.2014G>A	ENSP00000463151.1:p.Ala672Thr
NM_002900.2:c.2014G>A	NP_002891.1:p.Ala672Thr
NM_002900.3:c.2014G>A MANE Select	NP_002891.1:p.Ala672Thr