Canonical Allele Identifier: CA399657955
Gene: G6PC1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2005372
ClinVar RCV Id: RCV002820983
MyVariant Identifiers: chr17:g.41063435T>C (hg19) chr17:g.42911418T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911418T>C , CM000679.2:g.42911418T>C GRCh38
NC_000017.10:g.41063435T>C , CM000679.1:g.41063435T>C GRCh37
NC_000017.9:g.38316961T>C NCBI36
NG_011808.1:g.15621T>C , LRG_147:g.15621T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1066T>C MANE Select ENSP00000253801.1:p.Ser356Pro
ENST00000253801.6:c.1066T>C ENSP00000253801.1:p.Ser356Pro
ENST00000585489.1:c.*458T>C ENSP00000466202.1:n.*458T>C
NM_000151.3:c.1066T>C NP_000142.2:p.Ser356Pro
NM_001270397.1:c.*458T>C NP_001257326.1:n.*458T>C
NM_000151.4:c.1066T>C MANE Select NP_000142.2:p.Ser356Pro
NM_001270397.2:c.*458T>C NP_001257326.1:n.*458T>C
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