Canonical Allele Identifier: CA8587725
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs537055293
ExAC: 17:41063488 G / T
gnomAD v2: 17-41063488-G-T
gnomAD v3: 17-42911471-G-T
gnomAD v4: 17-42911471-G-T
MyVariant Identifiers: chr17:g.41063488G>T (hg19) chr17:g.42911471G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911471G>T , CM000679.2:g.42911471G>T GRCh38
NC_000017.10:g.41063488G>T , CM000679.1:g.41063488G>T GRCh37
NC_000017.9:g.38317014G>T NCBI36
NG_011808.1:g.15674G>T , LRG_147:g.15674G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*45G>T MANE Select ENSP00000253801.1:n.*45G>T
ENST00000253801.6:c.*45G>T ENSP00000253801.1:n.*45G>T
ENST00000585489.1:c.*511G>T ENSP00000466202.1:n.*511G>T
NM_000151.3:c.*45G>T NP_000142.2:n.*45G>T
NM_001270397.1:c.*511G>T NP_001257326.1:n.*511G>T
NM_000151.4:c.*45G>T MANE Select NP_000142.2:n.*45G>T
NM_001270397.2:c.*511G>T NP_001257326.1:n.*511G>T
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