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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:
CA402807160
Gene: GALR1
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr18:g.74980542C>G (hg19)
chr18:g.77268586C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000018.10:g.77268586C>G , CM000680.2:g.77268586C>G
GRCh38
NC_000018.9:g.74980542C>G , CM000680.1:g.74980542C>G
GRCh37
NC_000018.8:g.73109530C>G
NCBI36
NG_009223.1:g.23535C>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000299727.5:c.734C>G
MANE Select
ENSP00000299727.3:p.Thr245Ser
ENST00000299727.4:c.734C>G
ENSP00000299727.3:p.Thr245Ser
NM_001480.3:c.734C>G
NP_001471.2:p.Thr245Ser
NM_001480.4:c.734C>G
MANE Select
NP_001471.2:p.Thr245Ser
Search 100 bp 5'
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