Canonical Allele Identifier: CA399653186
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 543553
ClinVar RCV Id: RCV000654361
dbSNP Id: rs748363083
MyVariant Identifiers: chr17:g.41055972C>A (hg19) chr17:g.42903955C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42903955C>A , CM000679.2:g.42903955C>A GRCh38
NC_000017.10:g.41055972C>A , CM000679.1:g.41055972C>A GRCh37
NC_000017.9:g.38309498C>A NCBI36
NG_011808.1:g.8158C>A , LRG_147:g.8158C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.255C>A MANE Select ENSP00000253801.1:p.Tyr85Ter
ENST00000253801.6:c.255C>A ENSP00000253801.1:p.Tyr85Ter
ENST00000585489.1:c.255C>A ENSP00000466202.1:p.Tyr85Ter
ENST00000588481.1:n.320C>A
ENST00000592383.5:c.255C>A ENSP00000465958.1:p.Tyr85Ter
NM_000151.3:c.255C>A NP_000142.2:p.Tyr85Ter
NM_001270397.1:c.255C>A NP_001257326.1:p.Tyr85Ter
NM_000151.4:c.255C>A MANE Select NP_000142.2:p.Tyr85Ter
NM_001270397.2:c.255C>A NP_001257326.1:p.Tyr85Ter
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