Canonical Allele Identifier: CA376671019

Gene: RBP3

Linked Data

• dbSNP Id: rs1413472355
• gnomAD v2: 10-48389269-C-A
• gnomAD v4: 10-47350093-G-T
• MyVariant Identifiers: chr10:g.48389269C>A (hg19) ; chr10:g.47350093G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350093G>T , CM000672.2:g.47350093G>T	GRCh38
NC_000010.10:g.48389269C>A , CM000672.1:g.48389269C>A	GRCh37
NC_000010.9:g.48009275C>A	NCBI36
NG_029718.1:g.6723G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.1609G>T MANE Select	ENSP00000463151.1:p.Val537Leu
ENST00000584701.1:c.1609G>T	ENSP00000463151.1:p.Val537Leu
NM_002900.2:c.1609G>T	NP_002891.1:p.Val537Leu
NM_002900.3:c.1609G>T MANE Select	NP_002891.1:p.Val537Leu