Canonical Allele Identifier: CA206463665

Gene: RBP3

Linked Data

• ClinVar Variation Id: 1382997
• ClinVar RCV Id: RCV001890692
• dbSNP Id: rs782377821
• gnomAD v4: 10-47350261-G-T
• MyVariant Identifiers: chr10:g.48389101C>A (hg19) ; chr10:g.47350261G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350261G>T , CM000672.2:g.47350261G>T	GRCh38
NC_000010.10:g.48389101C>A , CM000672.1:g.48389101C>A	GRCh37
NC_000010.9:g.48009107C>A	NCBI36
NG_029718.1:g.6891G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1777G>T MANE Select	ENSP00000463151.1:p.Val593Leu
ENST00000584701.1:c.1777G>T	ENSP00000463151.1:p.Val593Leu
NM_002900.2:c.1777G>T	NP_002891.1:p.Val593Leu
NM_002900.3:c.1777G>T MANE Select	NP_002891.1:p.Val593Leu