Canonical Allele Identifier: CA626220820
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs768877181
gnomAD v2: 17-41053146-A-C
gnomAD v4: 17-42901129-A-C
MyVariant Identifiers: chr17:g.41053146A>C (hg19) chr17:g.42901129A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901129A>C , CM000679.2:g.42901129A>C GRCh38
NC_000017.10:g.41053146A>C , CM000679.1:g.41053146A>C GRCh37
NC_000017.9:g.38306672A>C NCBI36
NG_011808.1:g.5332A>C , LRG_147:g.5332A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.230+23A>C MANE Select ENSP00000253801.1:n.230+23A>C
ENST00000253801.6:c.230+23A>C ENSP00000253801.1:n.230+23A>C
ENST00000585489.1:c.230+23A>C ENSP00000466202.1:n.230+23A>C
ENST00000588481.1:n.295+23A>C
ENST00000592383.5:c.230+23A>C ENSP00000465958.1:n.230+23A>C
NM_000151.3:c.230+23A>C NP_000142.2:n.230+23A>C
NM_001270397.1:c.230+23A>C NP_001257326.1:n.230+23A>C
NM_000151.4:c.230+23A>C MANE Select NP_000142.2:n.230+23A>C
NM_001270397.2:c.230+23A>C NP_001257326.1:n.230+23A>C
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