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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:
CA39562130
Gene: TOMM20
HGNC
NCBI
Linked Data
dbSNP Id:
rs892190185
MyVariant Identifiers:
chr1:g.235276220A>C (hg19)
chr1:g.235112905A>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.235112905A>C , CM000663.2:g.235112905A>C
GRCh38
NC_000001.10:g.235276220A>C , CM000663.1:g.235276220A>C
GRCh37
NC_000001.9:g.233342843A>C
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000366607.5:c.394-797T>G
MANE Select
ENSP00000355566.4:n.394-797T>G
ENST00000366607.4:c.394-797T>G
ENSP00000355566.4:n.394-797T>G
ENST00000467767.5:n.294-797T>G
ENST00000473132.1:n.360-797T>G
NM_014765.2:c.394-797T>G
NP_055580.1:n.394-797T>G
NM_014765.3:c.394-797T>G
MANE Select
NP_055580.1:n.394-797T>G
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