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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:
CA408238576
Gene: JAG1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr20:g.10630991G>T (hg19)
chr20:g.10650343G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000020.11:g.10650343G>T , CM000682.2:g.10650343G>T
GRCh38
NC_000020.10:g.10630991G>T , CM000682.1:g.10630991G>T
GRCh37
NC_000020.9:g.10578991G>T
NCBI36
NG_007496.1:g.28704C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000254958.10:c.1138C>A
MANE Select
ENSP00000254958.4:p.Pro380Thr
ENST00000617965.2:n.1727C>A
ENST00000254958.9:c.1138C>A
ENSP00000254958.4:p.Pro380Thr
ENST00000423891.6:n.1004C>A
NM_000214.2:c.1138C>A
NP_000205.1:p.Pro380Thr
NM_000214.3:c.1138C>A
MANE Select
NP_000205.1:p.Pro380Thr
Search 100 bp 5'
Search 100 bp 3'