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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:
CA377677114
Gene: CYP2C9
HGNC
NCBI
Linked Data
dbSNP Id:
rs1164878004
gnomAD v2:
10-96748735-G-C
gnomAD v3:
10-94988978-G-C
gnomAD v4:
10-94988978-G-C
MyVariant Identifiers:
chr10:g.96748735G>C (hg19)
chr10:g.94988978G>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000010.11:g.94988978G>C , CM000672.2:g.94988978G>C
GRCh38
NC_000010.10:g.96748735G>C , CM000672.1:g.96748735G>C
GRCh37
NC_000010.9:g.96738725G>C
NCBI36
NG_008385.1:g.55321G>C
NG_008385.2:g.55821G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000260682.8:c.1423G>C
MANE Select
ENSP00000260682.6:p.Gly475Arg
ENST00000643112.1:c.*432G>C
ENSP00000496202.1:n.*432G>C
ENST00000260682.6:c.1423G>C
ENSP00000260682.6:p.Gly475Arg
NM_000771.3:c.1423G>C
NP_000762.2:p.Gly475Arg
NM_000771.4:c.1423G>C
MANE Select
NP_000762.2:p.Gly475Arg
Search 100 bp 5'
Search 100 bp 3'