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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:
CA357086111
Gene: UGT2B15
HGNC
NCBI
Linked Data
dbSNP Id:
rs780455514
gnomAD v3:
4-68670269-C-T
gnomAD v4:
4-68670269-C-T
MyVariant Identifiers:
chr4:g.69535987C>T (hg19)
chr4:g.68670269C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.68670269C>T , CM000666.2:g.68670269C>T
GRCh38
NC_000004.11:g.69535987C>T , CM000666.1:g.69535987C>T
GRCh37
NC_000004.10:g.69218582C>T
NCBI36
NG_052676.1:g.5508G>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000338206.6:c.350G>A
MANE Select
ENSP00000341045.5:p.Cys117Tyr
ENST00000338206.5:c.350G>A
ENSP00000341045.5:p.Cys117Tyr
ENST00000616841.4:c.350G>A
ENSP00000482004.1:p.Cys117Tyr
NM_001076.3:c.350G>A
NP_001067.2:p.Cys117Tyr
NM_001076.4:c.350G>A
MANE Select
NP_001067.2:p.Cys117Tyr
Search 100 bp 5'
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