×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA339010567
Gene: FUCA1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr1:g.24194676G>T (hg19)
chr1:g.23868186G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000001.11:g.23868186G>T , CM000663.2:g.23868186G>T
GRCh38
NC_000001.10:g.24194676G>T , CM000663.1:g.24194676G>T
GRCh37
NC_000001.9:g.24067263G>T
NCBI36
NG_013346.1:g.5184C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000374479.4:c.101C>A
MANE Select
ENSP00000363603.3:p.Pro34Gln
ENST00000374479.3:c.101C>A
ENSP00000363603.3:p.Pro34Gln
NM_000147.4:c.101C>A
NP_000138.2:p.Pro34Gln
XM_005245821.1:c.-449C>A
XP_005245878.1:n.-449C>A
XM_005245821.3:c.-449C>A
XP_005245878.1:n.-449C>A
NM_000147.5:c.101C>A
MANE Select
NP_000138.2:p.Pro34Gln
NR_174379.1:n.105C>A
NR_174380.1:n.105C>A
NR_174381.1:n.105C>A
NR_174382.1:n.105C>A
Search 100 bp 5'
Search 100 bp 3'