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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:
CA339010572
Gene: FUCA1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.24194679G>A (hg19)
chr1:g.23868189G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.23868189G>A , CM000663.2:g.23868189G>A
GRCh38
NC_000001.10:g.24194679G>A , CM000663.1:g.24194679G>A
GRCh37
NC_000001.9:g.24067266G>A
NCBI36
NG_013346.1:g.5181C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000374479.4:c.98C>T
MANE Select
ENSP00000363603.3:p.Pro33Leu
ENST00000374479.3:c.98C>T
ENSP00000363603.3:p.Pro33Leu
NM_000147.4:c.98C>T
NP_000138.2:p.Pro33Leu
XM_005245821.1:c.-452C>T
XP_005245878.1:n.-452C>T
XM_005245821.3:c.-452C>T
XP_005245878.1:n.-452C>T
NM_000147.5:c.98C>T
MANE Select
NP_000138.2:p.Pro33Leu
NR_174379.1:n.102C>T
NR_174380.1:n.102C>T
NR_174381.1:n.102C>T
NR_174382.1:n.102C>T
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