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: CA1096565218

Gene:

Linked Data

dbSNP Id: rs1780353357

gnomAD v3: 6-160668697-A-G

gnomAD v4: 6-160668697-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.160668697A>G , CM000668.2:g.160668697A>G	GRCh38
NC_000006.11:g.161089729A>G , CM000668.1:g.161089729A>G	GRCh37
NC_000006.10:g.161009719A>G	NCBI36
NG_016147.1:g.2679T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000452651.1:n.115-2324T>C

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