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: CA2676266888

Gene:

Linked Data

gnomAD v4: 5-159333125-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.159333125A>G , CM000667.2:g.159333125A>G	GRCh38
NC_000005.9:g.158760133A>G , CM000667.1:g.158760133A>G	GRCh37
NC_000005.8:g.158692711A>G	NCBI36
NG_009618.1:g.2349T>C , LRG_71:g.2349T>C

Transcript Alleles

HGVS	Amino-acid change
NR_037889.1:n.745+122A>G

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