Canonical Allele Identifier: CA256187
Community Standard Title: NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr)
Gene: G6PC1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42907552G>A , CM000679.2:g.42907552G>A GRCh38
NC_000017.10:g.41059569G>A , CM000679.1:g.41059569G>A GRCh37
NC_000017.9:g.38313095G>A NCBI36
NG_011808.1:g.11755G>A , LRG_147:g.11755G>A

Transcript Alleles

HGVS Amino-acid Change
NM_000151.4:c.370G>A MANE Select NP_000142.2:p.Ala124Thr
ENST00000253801.7:c.370G>A MANE Select ENSP00000253801.1:p.Ala124Thr
NM_000151.3:c.370G>A NP_000142.2:p.Ala124Thr
NM_001270397.1:c.341-48G>A NP_001257326.1:n.341-48G>A
NM_001270397.2:c.341-48G>A NP_001257326.1:n.341-48G>A
ENST00000253801.6:c.370G>A ENSP00000253801.1:p.Ala124Thr
ENST00000585489.1:c.370G>A ENSP00000466202.1:p.Ala124Thr
ENST00000592383.5:c.341-48G>A ENSP00000465958.1:n.341-48G>A
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