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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:
CA281603
Gene: ZIC3
HGNC
NCBI
Linked Data
ClinVar Variation Id:
11434
ClinVar RCV Id:
RCV000012187
dbSNP Id:
rs122462166
MyVariant Identifiers:
chrX:g.136649654C>A (hg19)
chrX:g.137567495C>A (hg38)
PubMed:
PMID:9354794
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.137567495C>A , CM000685.2:g.137567495C>A
GRCh38
NC_000023.10:g.136649654C>A , CM000685.1:g.136649654C>A
GRCh37
NC_000023.9:g.136477320C>A
NCBI36
NG_008115.1:g.6309C>A
NG_008115.2:g.6369C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000287538.10:c.804C>A
MANE Select
ENSP00000287538.5:p.Cys268Ter
ENST00000287538.9:c.804C>A
ENSP00000287538.5:p.Cys268Ter
ENST00000370606.3:c.804C>A
ENSP00000359638.3:p.Cys268Ter
NM_003413.3:c.804C>A
NP_003404.1:p.Cys268Ter
NM_001330661.1:c.804C>A
NP_001317590.1:p.Cys268Ter
NM_003413.4:c.804C>A
MANE Select
NP_003404.1:p.Cys268Ter
Search 100 bp 5'
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