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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:
CA355704940
Gene: CRYGS
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.186257356C>G (hg19)
chr3:g.186539567C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186539567C>G , CM000665.2:g.186539567C>G
GRCh38
NC_000003.11:g.186257356C>G , CM000665.1:g.186257356C>G
GRCh37
NC_000003.10:g.187740050C>G
NCBI36
NG_009829.1:g.9812G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000307944.6:c.52G>C
MANE Select
ENSP00000312099.5:p.Gly18Arg
ENST00000307944.5:c.52G>C
ENSP00000312099.5:p.Gly18Arg
ENST00000392499.6:c.52G>C
ENSP00000376287.2:p.Gly18Arg
ENST00000460288.1:n.954G>C
NM_017541.2:c.52G>C
NP_060011.1:p.Gly18Arg
NM_017541.3:c.52G>C
NP_060011.1:p.Gly18Arg
NM_017541.4:c.52G>C
MANE Select
NP_060011.1:p.Gly18Arg
Search 100 bp 5'
Search 100 bp 3'