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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:
CA399649602
Gene: G6PC1
HGNC
NCBI
Linked Data
dbSNP Id:
rs778406722
gnomAD v2:
17-41052895-T-A
gnomAD v4:
17-42900878-T-A
MyVariant Identifiers:
chr17:g.41052895T>A (hg19)
chr17:g.42900878T>A (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000017.11:g.42900878T>A , CM000679.2:g.42900878T>A
GRCh38
NC_000017.10:g.41052895T>A , CM000679.1:g.41052895T>A
GRCh37
NC_000017.9:g.38306421T>A
NCBI36
NG_011808.1:g.5081T>A , LRG_147:g.5081T>A
Transcript Alleles
HGVS
Amino-acid change
ENST00000253801.7:c.2T>A
MANE Select
ENSP00000253801.1:p.Met1Lys
ENST00000253801.6:c.2T>A
ENSP00000253801.1:p.Met1Lys
ENST00000585489.1:c.2T>A
ENSP00000466202.1:p.Met1Lys
ENST00000588481.1:n.67T>A
ENST00000592383.5:c.2T>A
ENSP00000465958.1:p.Met1Lys
NM_000151.3:c.2T>A
NP_000142.2:p.Met1Lys
NM_001270397.1:c.2T>A
NP_001257326.1:p.Met1Lys
NM_000151.4:c.2T>A
MANE Select
NP_000142.2:p.Met1Lys
NM_001270397.2:c.2T>A
NP_001257326.1:p.Met1Lys
Search 100 bp 5'
Search 100 bp 3'