Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

Canonical Allele Identifier: CA376671478

Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs147386314

gnomAD v3: 10-47350266-G-C

gnomAD v4: 10-47350266-G-C

MyVariant Identifiers: chr10:g.48389096C>G (hg19) chr10:g.47350266G>C (hg38)

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47350266G>C , CM000672.2:g.47350266G>C	GRCh38
NC_000010.10:g.48389096C>G , CM000672.1:g.48389096C>G	GRCh37
NC_000010.9:g.48009102C>G	NCBI36
NG_029718.1:g.6896G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000584701.2:c.1782G>C MANE Select	ENSP00000463151.1:p.Pro594=
ENST00000584701.1:c.1782G>C	ENSP00000463151.1:p.Pro594=
NM_002900.2:c.1782G>C	NP_002891.1:p.Pro594=
NM_002900.3:c.1782G>C MANE Select	NP_002891.1:p.Pro594=

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