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: CA376676682

Gene: RBP3 HGNC NCBI

Linked Data

dbSNP Id: rs1837007677

gnomAD v4: 10-47353513-G-A

MyVariant Identifiers: chr10:g.48385849C>T (hg19) chr10:g.47353513G>A (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.47353513G>A , CM000672.2:g.47353513G>A	GRCh38
NC_000010.10:g.48385849C>T , CM000672.1:g.48385849C>T	GRCh37
NC_000010.9:g.48005855C>T	NCBI36
NG_029718.1:g.10143G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000584701.2:c.3243G>A MANE Select	ENSP00000463151.1:p.Met1081Ile
ENST00000584701.1:c.3243G>A	ENSP00000463151.1:p.Met1081Ile
NM_002900.2:c.3243G>A	NP_002891.1:p.Met1081Ile
NM_002900.3:c.3243G>A MANE Select	NP_002891.1:p.Met1081Ile

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