Canonical Allele Identifier: CA2638041928
Gene: G6PC1 HGNC NCBI

Linked Data

gnomAD v4: 17-42911489-T-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.42911489T>C , CM000679.2:g.42911489T>C GRCh38
NC_000017.10:g.41063506T>C , CM000679.1:g.41063506T>C GRCh37
NC_000017.9:g.38317032T>C NCBI36
NG_011808.1:g.15692T>C , LRG_147:g.15692T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000253801.7:c.*63T>C MANE Select ENSP00000253801.1:n.*63T>C
ENST00000253801.6:c.*63T>C ENSP00000253801.1:n.*63T>C
NM_000151.3:c.*63T>C NP_000142.2:n.*63T>C
NM_001270397.1:c.*529T>C NP_001257326.1:n.*529T>C
NM_000151.4:c.*63T>C MANE Select NP_000142.2:n.*63T>C
NM_001270397.2:c.*529T>C NP_001257326.1:n.*529T>C
Search 100 bp 5'
Search 100 bp 3'