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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:
CA19283602
Gene: FUCA1
HGNC
NCBI
Linked Data
dbSNP Id:
rs368369988
gnomAD v2:
1-24194677-G-A
gnomAD v3:
1-23868187-G-A
gnomAD v4:
1-23868187-G-A
MyVariant Identifiers:
chr1:g.24194677G>A (hg19)
chr1:g.23868187G>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.23868187G>A , CM000663.2:g.23868187G>A
GRCh38
NC_000001.10:g.24194677G>A , CM000663.1:g.24194677G>A
GRCh37
NC_000001.9:g.24067264G>A
NCBI36
NG_013346.1:g.5183C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000374479.4:c.100C>T
MANE Select
ENSP00000363603.3:p.Pro34Ser
ENST00000374479.3:c.100C>T
ENSP00000363603.3:p.Pro34Ser
NM_000147.4:c.100C>T
NP_000138.2:p.Pro34Ser
XM_005245821.1:c.-450C>T
XP_005245878.1:n.-450C>T
XM_005245821.3:c.-450C>T
XP_005245878.1:n.-450C>T
NM_000147.5:c.100C>T
MANE Select
NP_000138.2:p.Pro34Ser
NR_174379.1:n.104C>T
NR_174380.1:n.104C>T
NR_174381.1:n.104C>T
NR_174382.1:n.104C>T
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