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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:
CA269988936
Gene: TGM5
HGNC
NCBI
Linked Data
dbSNP Id:
rs973186755
gnomAD v3:
15-43266967-G-A
gnomAD v4:
15-43266967-G-A
MyVariant Identifiers:
chr15:g.43559165G>A (hg19)
chr15:g.43266967G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000015.10:g.43266967G>A , CM000677.2:g.43266967G>A
GRCh38
NC_000015.9:g.43559165G>A , CM000677.1:g.43559165G>A
GRCh37
NC_000015.8:g.41346457G>A
NCBI36
NG_016124.1:g.4891C>T
Transcript Alleles
HGVS
Amino-acid change
XM_011522229.1:c.-118C>T
XP_011520531.1:n.-118C>T
XR_931948.1:n.57C>T
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