Canonical Allele Identifier: CA376671404

Gene: RBP3

Linked Data

• gnomAD v4: 10-47350219-G-C
• MyVariant Identifiers: chr10:g.48389143C>G (hg19) ; chr10:g.47350219G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350219G>C , CM000672.2:g.47350219G>C	GRCh38
NC_000010.10:g.48389143C>G , CM000672.1:g.48389143C>G	GRCh37
NC_000010.9:g.48009149C>G	NCBI36
NG_029718.1:g.6849G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1735G>C MANE Select	ENSP00000463151.1:p.Val579Leu
ENST00000584701.1:c.1735G>C	ENSP00000463151.1:p.Val579Leu
NM_002900.2:c.1735G>C	NP_002891.1:p.Val579Leu
NM_002900.3:c.1735G>C MANE Select	NP_002891.1:p.Val579Leu