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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:
CA355704359
Gene: CRYGS
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr3:g.186257257C>A (hg19)
chr3:g.186539468C>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.186539468C>A , CM000665.2:g.186539468C>A
GRCh38
NC_000003.11:g.186257257C>A , CM000665.1:g.186257257C>A
GRCh37
NC_000003.10:g.187739951C>A
NCBI36
NG_009829.1:g.9911G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000307944.6:c.151G>T
MANE Select
ENSP00000312099.5:p.Glu51Ter
ENST00000307944.5:c.151G>T
ENSP00000312099.5:p.Glu51Ter
ENST00000392499.6:c.151G>T
ENSP00000376287.2:p.Glu51Ter
ENST00000460288.1:n.1053G>T
NM_017541.2:c.151G>T
NP_060011.1:p.Glu51Ter
NM_017541.3:c.151G>T
NP_060011.1:p.Glu51Ter
NM_017541.4:c.151G>T
MANE Select
NP_060011.1:p.Glu51Ter
Search 100 bp 5'
Search 100 bp 3'