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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:
CA347231520
Gene: SPR
HGNC
NCBI
Linked Data
MyVariant Identifiers:
chr2:g.73115531G>T (hg19)
chr2:g.72888402G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000002.12:g.72888402G>T , CM000664.2:g.72888402G>T
GRCh38
NC_000002.11:g.73115531G>T , CM000664.1:g.73115531G>T
GRCh37
NC_000002.10:g.72969039G>T
NCBI36
NG_008234.1:g.6020G>T
Transcript Alleles
HGVS
Amino-acid change
ENST00000234454.6:c.393G>T
MANE Select
ENSP00000234454.5:p.Met131Ile
ENST00000234454.5:c.393G>T
ENSP00000234454.5:p.Met131Ile
ENST00000498749.1:n.356-18G>T
NM_003124.4:c.393G>T
NP_003115.1:p.Met131Ile
NM_003124.5:c.393G>T
MANE Select
NP_003115.1:p.Met131Ile
Search 100 bp 5'
Search 100 bp 3'