Canonical Allele Identifier: CA399657583
Gene: G6PC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.41063378T>G (hg19) chr17:g.42911361T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911361T>G , CM000679.2:g.42911361T>G GRCh38
NC_000017.10:g.41063378T>G , CM000679.1:g.41063378T>G GRCh37
NC_000017.9:g.38316904T>G NCBI36
NG_011808.1:g.15564T>G , LRG_147:g.15564T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1009T>G MANE Select ENSP00000253801.1:p.Ser337Ala
ENST00000253801.6:c.1009T>G ENSP00000253801.1:p.Ser337Ala
ENST00000585489.1:c.*401T>G ENSP00000466202.1:n.*401T>G
NM_000151.3:c.1009T>G NP_000142.2:p.Ser337Ala
NM_001270397.1:c.*401T>G NP_001257326.1:n.*401T>G
NM_000151.4:c.1009T>G MANE Select NP_000142.2:p.Ser337Ala
NM_001270397.2:c.*401T>G NP_001257326.1:n.*401T>G
Search 100 bp 5'
Search 100 bp 3'