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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:
CA10630536
Gene: CSRP3
HGNC
NCBI
CSRP3-AS1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
303960
ClinVar RCV Id:
RCV000361767
dbSNP Id:
rs112672382
gnomAD v2:
11-19232042-T-C
gnomAD v3:
11-19210495-T-C
gnomAD v4:
11-19210495-T-C
MyVariant Identifiers:
chr11:g.19232042T>C (hg19)
chr11:g.19210495T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.19210495T>C , CM000673.2:g.19210495T>C
GRCh38
NC_000011.9:g.19232042T>C , CM000673.1:g.19232042T>C
GRCh37
NC_000011.8:g.19188618T>C
NCBI36
NG_011932.2:g.5079A>G , LRG_440:g.5079A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000533783.2:c.-163A>G
(CSRP3)
ENSP00000431813.1:n.-163A>G
ENST00000533783.1:c.-163A>G
(CSRP3)
ENSP00000431813.1:n.-163A>G
NM_003476.4:c.-163A>G
(CSRP3)
NP_003467.1:n.-163A>G
XR_001748148.1:n.687+13576T>C
(CSRP3-AS1)
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