Canonical Allele Identifier: CA399654638
Gene: G6PC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.41061318A>T (hg19) chr17:g.42909301A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42909301A>T , CM000679.2:g.42909301A>T GRCh38
NC_000017.10:g.41061318A>T , CM000679.1:g.41061318A>T GRCh37
NC_000017.9:g.38314844A>T NCBI36
NG_011808.1:g.13504A>T , LRG_147:g.13504A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.447-2A>T MANE Select ENSP00000253801.1:n.447-2A>T
ENST00000253801.6:c.447-2A>T ENSP00000253801.1:n.447-2A>T
ENST00000585489.1:c.447-1614A>T ENSP00000466202.1:n.447-1614A>T
ENST00000592383.5:c.370-2A>T ENSP00000465958.1:n.370-2A>T
NM_000151.3:c.447-2A>T NP_000142.2:n.447-2A>T
NM_001270397.1:c.370-2A>T NP_001257326.1:n.370-2A>T
NM_000151.4:c.447-2A>T MANE Select NP_000142.2:n.447-2A>T
NM_001270397.2:c.370-2A>T NP_001257326.1:n.370-2A>T
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