Canonical Allele Identifier: CA5487254

Gene: RBP3

Linked Data

• ClinVar Variation Id: 299963
• ClinVar RCV Id: RCV000387230 ; RCV001517656 ; RCV003930265
• dbSNP Id: rs375422843
• ExAC: 10:48388322 G / A
• gnomAD v2: 10-48388322-G-A
• gnomAD v3: 10-47351040-C-T
• gnomAD v4: 10-47351040-C-T
• MyVariant Identifiers: chr10:g.48388322G>A (hg19) ; chr10:g.47351040C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47351040C>T , CM000672.2:g.47351040C>T	GRCh38
NC_000010.10:g.48388322G>A , CM000672.1:g.48388322G>A	GRCh37
NC_000010.9:g.48008328G>A	NCBI36
NG_029718.1:g.7670C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.2556C>T MANE Select	ENSP00000463151.1:p.Ala852=
ENST00000584701.1:c.2556C>T	ENSP00000463151.1:p.Ala852=
NM_002900.2:c.2556C>T	NP_002891.1:p.Ala852=
NM_002900.3:c.2556C>T MANE Select	NP_002891.1:p.Ala852=