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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:
CA1018160469
Gene: PREX1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2090192027
gnomAD v3:
20-48763270-C-T
gnomAD v4:
20-48763270-C-T
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.48763270C>T , CM000682.2:g.48763270C>T
GRCh38
NC_000020.10:g.47379807C>T , CM000682.1:g.47379807C>T
GRCh37
NC_000020.9:g.46813214C>T
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000371941.4:c.220-15390G>A
MANE Select
ENSP00000361009.3:n.220-15390G>A
ENST00000371941.3:c.220-15390G>A
ENSP00000361009.3:n.220-15390G>A
NM_020820.3:c.220-15390G>A
NP_065871.2:n.220-15390G>A
NM_020820.4:c.220-15390G>A
MANE Select
NP_065871.3:n.220-15390G>A
Search 100 bp 5'
Search 100 bp 3'