Canonical Allele Identifier: CA983865313
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs2056020241
gnomAD v3: 17-42900814-A-C
gnomAD v4: 17-42900814-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42900814A>C , CM000679.2:g.42900814A>C GRCh38
NC_000017.10:g.41052831A>C , CM000679.1:g.41052831A>C GRCh37
NC_000017.9:g.38306357A>C NCBI36
NG_011808.1:g.5017A>C , LRG_147:g.5017A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.-63A>C MANE Select ENSP00000253801.1:n.-63A>C
ENST00000253801.6:c.-63A>C ENSP00000253801.1:n.-63A>C
ENST00000585489.1:c.-63A>C ENSP00000466202.1:n.-63A>C
ENST00000588481.1:n.3A>C
ENST00000592383.5:c.-63A>C ENSP00000465958.1:n.-63A>C
NM_000151.3:c.-63A>C NP_000142.2:n.-63A>C
NM_001270397.1:c.-63A>C NP_001257326.1:n.-63A>C
NM_000151.4:c.-63A>C MANE Select NP_000142.2:n.-63A>C
NM_001270397.2:c.-63A>C NP_001257326.1:n.-63A>C
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