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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:
CA355704407
Gene: CRYGS
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.186257266C>G (hg19)
chr3:g.186539477C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186539477C>G , CM000665.2:g.186539477C>G
GRCh38
NC_000003.11:g.186257266C>G , CM000665.1:g.186257266C>G
GRCh37
NC_000003.10:g.187739960C>G
NCBI36
NG_009829.1:g.9902G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000307944.6:c.142G>C
MANE Select
ENSP00000312099.5:p.Ala48Pro
ENST00000307944.5:c.142G>C
ENSP00000312099.5:p.Ala48Pro
ENST00000392499.6:c.142G>C
ENSP00000376287.2:p.Ala48Pro
ENST00000460288.1:n.1044G>C
NM_017541.2:c.142G>C
NP_060011.1:p.Ala48Pro
NM_017541.3:c.142G>C
NP_060011.1:p.Ala48Pro
NM_017541.4:c.142G>C
MANE Select
NP_060011.1:p.Ala48Pro
Search 100 bp 5'
Search 100 bp 3'