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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:
CA2665773789
Gene: TRAIP
HGNC
NCBI
Linked Data
gnomAD v4:
3-49828987-C-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.49828987C>A , CM000665.2:g.49828987C>A
GRCh38
NC_000003.11:g.49866420C>A , CM000665.1:g.49866420C>A
GRCh37
NC_000003.10:g.49841424C>A
NCBI36
NG_046695.1:g.32573G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000331456.7:c.*116G>T
MANE Select
ENSP00000328203.2:n.*116G>T
ENST00000331456.6:c.*116G>T
ENSP00000328203.2:n.*116G>T
ENST00000491060.1:n.680G>T
NM_005879.2:c.*116G>T
NP_005870.2:n.*116G>T
XM_011533264.1:c.*116G>T
XP_011531566.1:n.*116G>T
XM_017005526.1:c.*116G>T
XP_016861015.1:n.*116G>T
XR_001739979.1:n.1730G>T
NM_005879.3:c.*116G>T
MANE Select
NP_005870.2:n.*116G>T
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