Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA942571894

Gene:

Linked Data

dbSNP Id: rs1861335018

gnomAD v3: 11-116442646-T-G

gnomAD v4: 11-116442646-T-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.116442646T>G , CM000673.2:g.116442646T>G	GRCh38
NC_000011.9:g.116313363T>G , CM000673.1:g.116313363T>G	GRCh37
NC_000011.8:g.115818573T>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
XR_001748403.1:n.349+31231A>C

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