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: CA2589322062

Gene: RBMY1J HGNC NCBI

Linked Data

gnomAD v3: Y-22329520-T-C

gnomAD v4: Y-22329520-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000024.10:g.22329520T>C , CM000686.2:g.22329520T>C	GRCh38
NC_000024.9:g.24475667T>C , CM000686.1:g.24475667T>C	GRCh37
NC_000024.8:g.22885055T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000414629.6:c.-5+20550T>C	ENSP00000405745.2:n.-5+20550T>C
ENST00000445779.6:c.-5+20550T>C	ENSP00000389621.2:n.-5+20550T>C

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