Canonical Allele Identifier: CA376671604

Gene: RBP3

Linked Data

• gnomAD v4: 10-47350333-G-C
• MyVariant Identifiers: chr10:g.48389029C>G (hg19) ; chr10:g.47350333G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350333G>C , CM000672.2:g.47350333G>C	GRCh38
NC_000010.10:g.48389029C>G , CM000672.1:g.48389029C>G	GRCh37
NC_000010.9:g.48009035C>G	NCBI36
NG_029718.1:g.6963G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1849G>C MANE Select	ENSP00000463151.1:p.Val617Leu
ENST00000584701.1:c.1849G>C	ENSP00000463151.1:p.Val617Leu
NM_002900.2:c.1849G>C	NP_002891.1:p.Val617Leu
NM_002900.3:c.1849G>C MANE Select	NP_002891.1:p.Val617Leu