Canonical Allele Identifier: CA399653481
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42904035-G-C
MyVariant Identifiers: chr17:g.41056052G>C (hg19) chr17:g.42904035G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42904035G>C , CM000679.2:g.42904035G>C GRCh38
NC_000017.10:g.41056052G>C , CM000679.1:g.41056052G>C GRCh37
NC_000017.9:g.38309578G>C NCBI36
NG_011808.1:g.8238G>C , LRG_147:g.8238G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000253801.7:c.335G>C MANE Select ENSP00000253801.1:p.Gly112Ala
ENST00000253801.6:c.335G>C ENSP00000253801.1:p.Gly112Ala
ENST00000585489.1:c.335G>C ENSP00000466202.1:p.Gly112Ala
ENST00000588481.1:n.400G>C
ENST00000592383.5:c.335G>C ENSP00000465958.1:p.Gly112Ala
NM_000151.3:c.335G>C NP_000142.2:p.Gly112Ala
NM_001270397.1:c.335G>C NP_001257326.1:p.Gly112Ala
NM_000151.4:c.335G>C MANE Select NP_000142.2:p.Gly112Ala
NM_001270397.2:c.335G>C NP_001257326.1:p.Gly112Ala
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