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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:
CA396679422
Gene: DHODH
HGNC
NCBI
Linked Data
dbSNP Id:
rs3213422
gnomAD v4:
16-72008783-A-G
MyVariant Identifiers:
chr16:g.72042682A>G (hg19)
chr16:g.72008783A>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.72008783A>G , CM000678.2:g.72008783A>G
GRCh38
NC_000016.9:g.72042682A>G , CM000678.1:g.72042682A>G
GRCh37
NC_000016.8:g.70600183A>G
NCBI36
NG_016271.1:g.5040A>G
Transcript Alleles
HGVS
Amino-acid change
ENST00000219240.9:c.19A>G
MANE Select
ENSP00000219240.4:p.Lys7Glu
ENST00000219240.8:c.19A>G
ENSP00000219240.4:p.Lys7Glu
ENST00000571288.6:c.6A>G
ENST00000572887.5:c.19A>G
ENSP00000461848.1:p.Lys7Glu
ENST00000574309.5:c.15A>G
NM_001361.4:c.19A>G
NP_001352.2:p.Lys7Glu
XM_017022990.2:c.-410A>G
XP_016878479.1:n.-410A>G
NM_001361.5:c.19A>G
MANE Select
NP_001352.2:p.Lys7Glu
Search 100 bp 5'
Search 100 bp 3'