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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:
CA640249
Gene: PADI3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
374869
ClinVar RCV Id:
RCV000415553
dbSNP Id:
rs144944758
ExAC:
1:17609392 C / A
gnomAD v2:
1-17609392-C-A
gnomAD v3:
1-17282897-C-A
gnomAD v4:
1-17282897-C-A
MyVariant Identifiers:
chr1:g.17609392C>A (hg19)
chr1:g.17282897C>A (hg38)
PubMed:
PMID:27866708
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.17282897C>A , CM000663.2:g.17282897C>A
GRCh38
NC_000001.10:g.17609392C>A , CM000663.1:g.17609392C>A
GRCh37
NC_000001.9:g.17481979C>A
NCBI36
NG_052788.1:g.38819C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000375460.3:c.1813C>A
MANE Select
ENSP00000364609.3:p.Pro605Thr
NM_016233.2:c.1813C>A
MANE Select
NP_057317.2:p.Pro605Thr
XM_006710684.2:c.1699C>A
XP_006710747.1:p.Pro567Thr
XM_011541571.1:c.1699C>A
XP_011539873.1:p.Pro567Thr
XM_011541571.2:c.1699C>A
XP_011539873.1:p.Pro567Thr
XM_017001463.1:c.1276C>A
XP_016856952.1:p.Pro426Thr
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