Canonical Allele Identifier: CA2260697553
Gene: G6PC1 HGNC NCBI

Linked Data

dbSNP Id: rs1241099625
gnomAD v4: 17-42911444-G-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911444G>T , CM000679.2:g.42911444G>T GRCh38
NC_000017.10:g.41063461G>T , CM000679.1:g.41063461G>T GRCh37
NC_000017.9:g.38316987G>T NCBI36
NG_011808.1:g.15647G>T , LRG_147:g.15647G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*18G>T MANE Select ENSP00000253801.1:n.*18G>T
ENST00000253801.6:c.*18G>T ENSP00000253801.1:n.*18G>T
ENST00000585489.1:c.*484G>T ENSP00000466202.1:n.*484G>T
NM_000151.3:c.*18G>T NP_000142.2:n.*18G>T
NM_001270397.1:c.*484G>T NP_001257326.1:n.*484G>T
NM_000151.4:c.*18G>T MANE Select NP_000142.2:n.*18G>T
NM_001270397.2:c.*484G>T NP_001257326.1:n.*484G>T
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