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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:
CA137714940
Gene: GLO1
HGNC
NCBI
Linked Data
gnomAD v4:
6-38682820-G-T
MyVariant Identifiers:
chr6:g.38650596G>T (hg19)
chr6:g.38682820G>T (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.38682820G>T , CM000668.2:g.38682820G>T
GRCh38
NC_000006.11:g.38650596G>T , CM000668.1:g.38650596G>T
GRCh37
NC_000006.10:g.38758574G>T
NCBI36
NG_012074.1:g.25357C>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000373365.5:c.364C>A
MANE Select
ENSP00000362463.3:p.Pro122Thr
ENST00000373365.4:c.364C>A
ENSP00000362463.3:p.Pro122Thr
ENST00000470973.1:n.396C>A
NM_006708.2:c.364C>A
NP_006699.2:p.Pro122Thr
NM_006708.3:c.364C>A
MANE Select
NP_006699.2:p.Pro122Thr
Search 100 bp 5'
Search 100 bp 3'