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: CA986349581

Gene: H3-3B HGNC NCBI

Linked Data

dbSNP Id: rs1060120

gnomAD v3: 17-75776919-C-G

gnomAD v4: 17-75776919-C-G

JSON-LD

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.75776919C>G , CM000679.2:g.75776919C>G	GRCh38
NC_000017.10:g.73773000C>G , CM000679.1:g.73773000C>G	GRCh37
NC_000017.9:g.71284595C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000254810.8:c.*1676G>C MANE Select	ENSP00000254810.3:n.*1676G>C
NM_005324.4:c.*1676G>C	NP_005315.1:n.*1676G>C
NM_005324.5:c.*1676G>C MANE Select	NP_005315.1:n.*1676G>C

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