Canonical Allele Identifier: CA8587502
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1682485
ClinVar RCV Id: RCV002239886
dbSNP Id: rs753502076
ExAC: 17:41053108 A / G
gnomAD v2: 17-41053108-A-G
gnomAD v3: 17-42901091-A-G
gnomAD v4: 17-42901091-A-G
MyVariant Identifiers: chr17:g.41053108A>G (hg19) chr17:g.42901091A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901091A>G , CM000679.2:g.42901091A>G GRCh38
NC_000017.10:g.41053108A>G , CM000679.1:g.41053108A>G GRCh37
NC_000017.9:g.38306634A>G NCBI36
NG_011808.1:g.5294A>G , LRG_147:g.5294A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.215A>G MANE Select ENSP00000253801.1:p.Asn72Ser
ENST00000253801.6:c.215A>G ENSP00000253801.1:p.Asn72Ser
ENST00000585489.1:c.215A>G ENSP00000466202.1:p.Asn72Ser
ENST00000588481.1:n.280A>G
ENST00000592383.5:c.215A>G ENSP00000465958.1:p.Asn72Ser
NM_000151.3:c.215A>G NP_000142.2:p.Asn72Ser
NM_001270397.1:c.215A>G NP_001257326.1:p.Asn72Ser
NM_000151.4:c.215A>G MANE Select NP_000142.2:p.Asn72Ser
NM_001270397.2:c.215A>G NP_001257326.1:p.Asn72Ser
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