Canonical Allele Identifier: CA2260697522
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911397C= , CM000679.2:g.42911397C= GRCh38
NC_000017.10:g.41063414C= , CM000679.1:g.41063414C= GRCh37
NC_000017.9:g.38316940C= NCBI36
NG_011808.1:g.15600C= , LRG_147:g.15600C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.1045C= MANE Select ENSP00000253801.1:p.Leu349=
ENST00000253801.6:c.1045C= ENSP00000253801.1:p.Leu349=
ENST00000585489.1:c.*437C= ENSP00000466202.1:n.*437C=
NM_000151.3:c.1045C= NP_000142.2:p.Leu349=
NM_001270397.1:c.*437C= NP_001257326.1:n.*437C=
NM_000151.4:c.1045C= MANE Select NP_000142.2:p.Leu349=
NM_001270397.2:c.*437C= NP_001257326.1:n.*437C=
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