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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:
CA374989701
Gene: ENG
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr9:g.130616631C>G (hg19)
chr9:g.127854352C>G (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.127854352C>G , CM000671.2:g.127854352C>G
GRCh38
NC_000009.11:g.130616631C>G , CM000671.1:g.130616631C>G
GRCh37
NC_000009.10:g.129656452C>G
NCBI36
NG_009551.1:g.5417G>C , LRG_589:g.5417G>C
Transcript Alleles
HGVS
Amino-acid change
ENST00000373203.9:c.4G>C
MANE Select
ENSP00000362299.4:p.Asp2His
ENST00000344849.4:c.4G>C
ENSP00000341917.3:p.Asp2His
ENST00000373203.8:c.4G>C
ENSP00000362299.4:p.Asp2His
NM_000118.3:c.4G>C , LRG_589t1:c.4G>C
NP_000109.1:p.Asp2His
NM_001114753.2:c.4G>C , LRG_589t2:c.4G>C
NP_001108225.1:p.Asp2His
NM_001114753.3:c.4G>C
MANE Select
NP_001108225.1:p.Asp2His
Search 100 bp 5'
Search 100 bp 3'