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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:
CA402595788
Gene: LMAN1
HGNC
NCBI
Linked Data
gnomAD v4:
18-59359164-G-T
MyVariant Identifiers:
chr18:g.57026396G>T (hg19)
chr18:g.59359164G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.59359164G>T , CM000680.2:g.59359164G>T
GRCh38
NC_000018.9:g.57026396G>T , CM000680.1:g.57026396G>T
GRCh37
NC_000018.8:g.55177376G>T
NCBI36
NG_012097.1:g.5113C>A
Transcript Alleles
HGVS
Amino-acid Change
ENST00000251047.6:c.81C>A
MANE Select
ENSP00000251047.4:p.Phe27Leu
ENST00000251047.5:c.81C>A
ENSP00000251047.4:p.Phe27Leu
ENST00000587561.1:n.102C>A
NM_005570.3:c.81C>A
NP_005561.1:p.Phe27Leu
NM_005570.4:c.81C>A
MANE Select
NP_005561.1:p.Phe27Leu
Search 100 bp 5'
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