Canonical Allele Identifier: CA2638040875
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42909488-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909488A>T , CM000679.2:g.42909488A>T GRCh38
NC_000017.10:g.41061505A>T , CM000679.1:g.41061505A>T GRCh37
NC_000017.9:g.38315031A>T NCBI36
NG_011808.1:g.13691A>T , LRG_147:g.13691A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.562+70A>T MANE Select ENSP00000253801.1:n.562+70A>T
ENST00000253801.6:c.562+70A>T ENSP00000253801.1:n.562+70A>T
ENST00000585489.1:c.447-1427A>T ENSP00000466202.1:n.447-1427A>T
ENST00000592383.5:c.485+70A>T ENSP00000465958.1:n.485+70A>T
NM_000151.3:c.562+70A>T NP_000142.2:n.562+70A>T
NM_001270397.1:c.485+70A>T NP_001257326.1:n.485+70A>T
NM_000151.4:c.562+70A>T MANE Select NP_000142.2:n.562+70A>T
NM_001270397.2:c.485+70A>T NP_001257326.1:n.485+70A>T
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