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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:
CA2499634
Gene: GBE1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
255383
ClinVar RCV Id:
RCV000552347
RCV000675504
RCV000248959
RCV000351575
RCV000389688
dbSNP Id:
rs2228389
ExAC:
3:81627175 T / C
gnomAD v2:
3-81627175-T-C
gnomAD v3:
3-81578024-T-C
gnomAD v4:
3-81578024-T-C
MyVariant Identifiers:
chr3:g.81627175T>C (hg19)
chr3:g.81578024T>C (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.81578024T>C , CM000665.2:g.81578024T>C
GRCh38
NC_000003.11:g.81627175T>C , CM000665.1:g.81627175T>C
GRCh37
NC_000003.10:g.81709865T>C
NCBI36
NG_011810.1:g.188777A>G
Transcript Alleles
HGVS
Amino-acid Change
ENST00000429644.7:c.1519A>G
MANE Select
ENSP00000410833.2:p.Thr507Ala
ENST00000429644.6:c.1519A>G
ENSP00000410833.2:p.Thr507Ala
ENST00000489715.1:c.1396A>G
ENSP00000419638.1:p.Thr466Ala
NM_000158.3:c.1519A>G
NP_000149.3:p.Thr507Ala
NM_000158.4:c.1519A>G
MANE Select
NP_000149.4:p.Thr507Ala
Search 100 bp 5'
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