Canonical Allele Identifier: CA399650243
Gene: G6PC1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.41052963C>A (hg19) chr17:g.42900946C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42900946C>A , CM000679.2:g.42900946C>A GRCh38
NC_000017.10:g.41052963C>A , CM000679.1:g.41052963C>A GRCh37
NC_000017.9:g.38306489C>A NCBI36
NG_011808.1:g.5149C>A , LRG_147:g.5149C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.70C>A MANE Select ENSP00000253801.1:p.Gln24Lys
ENST00000253801.6:c.70C>A ENSP00000253801.1:p.Gln24Lys
ENST00000585489.1:c.70C>A ENSP00000466202.1:p.Gln24Lys
ENST00000588481.1:n.135C>A
ENST00000592383.5:c.70C>A ENSP00000465958.1:p.Gln24Lys
NM_000151.3:c.70C>A NP_000142.2:p.Gln24Lys
NM_001270397.1:c.70C>A NP_001257326.1:p.Gln24Lys
NM_000151.4:c.70C>A MANE Select NP_000142.2:p.Gln24Lys
NM_001270397.2:c.70C>A NP_001257326.1:p.Gln24Lys
Search 100 bp 5'
Search 100 bp 3'