Canonical Allele Identifier: CA376671944

Gene: RBP3

Linked Data

• dbSNP Id: rs1555211395
• gnomAD v2: 10-48388848-A-G
• gnomAD v4: 10-47350514-T-C
• MyVariant Identifiers: chr10:g.48388848A>G (hg19) ; chr10:g.47350514T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350514T>C , CM000672.2:g.47350514T>C	GRCh38
NC_000010.10:g.48388848A>G , CM000672.1:g.48388848A>G	GRCh37
NC_000010.9:g.48008854A>G	NCBI36
NG_029718.1:g.7144T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000584701.2:c.2030T>C MANE Select	ENSP00000463151.1:p.Val677Ala
ENST00000584701.1:c.2030T>C	ENSP00000463151.1:p.Val677Ala
NM_002900.2:c.2030T>C	NP_002891.1:p.Val677Ala
NM_002900.3:c.2030T>C MANE Select	NP_002891.1:p.Val677Ala