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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.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA2610925127
Gene: ACSL5
HGNC
NCBI
Linked Data
gnomAD v4:
10-112375170-G-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.112375170G>A , CM000672.2:g.112375170G>A
GRCh38
NC_000010.10:g.114134928G>A , CM000672.1:g.114134928G>A
GRCh37
NC_000010.9:g.114124918G>A
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000354655.9:c.-30+901G>A
MANE Select
ENSP00000346680.4:n.-30+901G>A
ENST00000354655.8:c.-30+901G>A
ENSP00000346680.4:n.-30+901G>A
NM_203379.1:c.-30+901G>A
NP_976313.1:n.-30+901G>A
NM_203379.2:c.-30+901G>A
MANE Select
NP_976313.1:n.-30+901G>A
Search 100 bp 5'
Search 100 bp 3'