Canonical Allele Identifier: CA8587721
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs755143616
ExAC: 17:41063475 C / A
gnomAD v2: 17-41063475-C-A
gnomAD v4: 17-42911458-C-A
MyVariant Identifiers: chr17:g.41063475C>A (hg19) chr17:g.42911458C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911458C>A , CM000679.2:g.42911458C>A GRCh38
NC_000017.10:g.41063475C>A , CM000679.1:g.41063475C>A GRCh37
NC_000017.9:g.38317001C>A NCBI36
NG_011808.1:g.15661C>A , LRG_147:g.15661C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*32C>A MANE Select ENSP00000253801.1:n.*32C>A
ENST00000253801.6:c.*32C>A ENSP00000253801.1:n.*32C>A
ENST00000585489.1:c.*498C>A ENSP00000466202.1:n.*498C>A
NM_000151.3:c.*32C>A NP_000142.2:n.*32C>A
NM_001270397.1:c.*498C>A NP_001257326.1:n.*498C>A
NM_000151.4:c.*32C>A MANE Select NP_000142.2:n.*32C>A
NM_001270397.2:c.*498C>A NP_001257326.1:n.*498C>A
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