Canonical Allele Identifier: CA399649866
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1932452
ClinVar RCV Id: RCV002622572 RCV004066601
dbSNP Id: rs1597986754
gnomAD v4: 17-42900903-T-A
MyVariant Identifiers: chr17:g.41052920T>A (hg19) chr17:g.42900903T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42900903T>A , CM000679.2:g.42900903T>A GRCh38
NC_000017.10:g.41052920T>A , CM000679.1:g.41052920T>A GRCh37
NC_000017.9:g.38306446T>A NCBI36
NG_011808.1:g.5106T>A , LRG_147:g.5106T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.27T>A MANE Select ENSP00000253801.1:p.His9Gln
ENST00000253801.6:c.27T>A ENSP00000253801.1:p.His9Gln
ENST00000585489.1:c.27T>A ENSP00000466202.1:p.His9Gln
ENST00000588481.1:n.92T>A
ENST00000592383.5:c.27T>A ENSP00000465958.1:p.His9Gln
NM_000151.3:c.27T>A NP_000142.2:p.His9Gln
NM_001270397.1:c.27T>A NP_001257326.1:p.His9Gln
NM_000151.4:c.27T>A MANE Select NP_000142.2:p.His9Gln
NM_001270397.2:c.27T>A NP_001257326.1:p.His9Gln
Search 100 bp 5'
Search 100 bp 3'