Canonical Allele Identifier: CA399651551
Gene: G6PC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.41053117T>A (hg19) chr17:g.42901100T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42901100T>A , CM000679.2:g.42901100T>A GRCh38
NC_000017.10:g.41053117T>A , CM000679.1:g.41053117T>A GRCh37
NC_000017.9:g.38306643T>A NCBI36
NG_011808.1:g.5303T>A , LRG_147:g.5303T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.224T>A MANE Select ENSP00000253801.1:p.Phe75Tyr
ENST00000253801.6:c.224T>A ENSP00000253801.1:p.Phe75Tyr
ENST00000585489.1:c.224T>A ENSP00000466202.1:p.Phe75Tyr
ENST00000588481.1:n.289T>A
ENST00000592383.5:c.224T>A ENSP00000465958.1:p.Phe75Tyr
NM_000151.3:c.224T>A NP_000142.2:p.Phe75Tyr
NM_001270397.1:c.224T>A NP_001257326.1:p.Phe75Tyr
NM_000151.4:c.224T>A MANE Select NP_000142.2:p.Phe75Tyr
NM_001270397.2:c.224T>A NP_001257326.1:p.Phe75Tyr
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