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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:
CA414770751
Gene: ZIC3
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chrX:g.136649664T>G (hg19)
chrX:g.137567505T>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.137567505T>G , CM000685.2:g.137567505T>G
GRCh38
NC_000023.10:g.136649664T>G , CM000685.1:g.136649664T>G
GRCh37
NC_000023.9:g.136477330T>G
NCBI36
NG_008115.1:g.6319T>G
NG_008115.2:g.6379T>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000287538.10:c.814T>G
MANE Select
ENSP00000287538.5:p.Phe272Val
ENST00000287538.9:c.814T>G
ENSP00000287538.5:p.Phe272Val
ENST00000370606.3:c.814T>G
ENSP00000359638.3:p.Phe272Val
NM_003413.3:c.814T>G
NP_003404.1:p.Phe272Val
NM_001330661.1:c.814T>G
NP_001317590.1:p.Phe272Val
NM_003413.4:c.814T>G
MANE Select
NP_003404.1:p.Phe272Val
Search 100 bp 5'
Search 100 bp 3'