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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:
CA413254785
Gene: FGD1
HGNC
NCBI
Linked Data
gnomAD v4:
X-54495267-G-T
MyVariant Identifiers:
chrX:g.54521700G>T (hg19)
chrX:g.54495267G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000023.11:g.54495267G>T , CM000685.2:g.54495267G>T
GRCh38
NC_000023.10:g.54521700G>T , CM000685.1:g.54521700G>T
GRCh37
NC_000023.9:g.54538425G>T
NCBI36
NG_008054.1:g.5900C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000375135.4:c.166C>A
MANE Select
ENSP00000364277.3:p.Leu56Met
ENST00000375135.3:c.166C>A
ENSP00000364277.3:p.Leu56Met
NM_004463.2:c.166C>A
NP_004454.2:p.Leu56Met
NM_004463.3:c.166C>A
MANE Select
NP_004454.2:p.Leu56Met
Search 100 bp 5'
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