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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:
CA5616276
Gene: CYP2C19
HGNC
NCBI
Linked Data
dbSNP Id:
rs768096659
ExAC:
10:96522470 C / T
gnomAD v2:
10-96522470-C-T
COSMIC:
COSM3709965
MyVariant Identifiers:
chr10:g.96522470C>T (hg19)
chr10:g.94762713C>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94762713C>T , CM000672.2:g.94762713C>T
GRCh38
NC_000010.10:g.96522470C>T , CM000672.1:g.96522470C>T
GRCh37
NC_000010.9:g.96512460C>T
NCBI36
NG_008384.2:g.5008C>T
NG_008384.3:g.5033C>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000371321.9:c.8C>T
MANE Select
ENSP00000360372.3:p.Pro3Leu
ENST00000371321.7:c.8C>T
ENSP00000360372.3:p.Pro3Leu
ENST00000464755.1:c.932-12345C>T
ENSP00000483243.1:n.932-12345C>T
ENST00000480405.2:c.8C>T
ENSP00000483847.1:p.Pro3Leu
NM_000769.2:c.8C>T
NP_000760.1:p.Pro3Leu
NM_000769.4:c.8C>T
MANE Select
NP_000760.1:p.Pro3Leu
Search 100 bp 5'
Search 100 bp 3'