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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:
CA1591132035
Gene: IRGM
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.150848356A= , CM000667.2:g.150848356A=
GRCh38
NC_000005.9:g.150227918A= , CM000667.1:g.150227918A=
GRCh37
NC_000005.8:g.150208111A=
NCBI36
NG_027809.1:g.6834A=
NG_027809.2:g.6834A=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000522154.2:c.233A=
MANE Select
ENSP00000428220.1:p.Tyr78=
ENST00000522154.1:c.233A=
ENSP00000428220.1:p.Tyr78=
NM_001145805.1:c.233A=
NP_001139277.1:p.Tyr78=
XM_011537641.1:c.233A=
XP_011535943.1:p.Tyr78=
NM_001346557.1:c.233A=
NP_001333486.1:p.Tyr78=
NM_001346557.2:c.233A=
NP_001333486.1:p.Tyr78=
NM_001145805.2:c.233A=
MANE Select
NP_001139277.1:p.Tyr78=
NR_170598.1:n.1348A=
Search 100 bp 5'
Search 100 bp 3'