Canonical Allele Identifier: CA2638041922

Gene: G6PC1

Linked Data

• gnomAD v4: 17-42911480-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42911480G>T , CM000679.2:g.42911480G>T	GRCh38
NC_000017.10:g.41063497G>T , CM000679.1:g.41063497G>T	GRCh37
NC_000017.9:g.38317023G>T	NCBI36
NG_011808.1:g.15683G>T , LRG_147:g.15683G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000253801.7:c.*54G>T MANE Select	ENSP00000253801.1:n.*54G>T
ENST00000253801.6:c.*54G>T	ENSP00000253801.1:n.*54G>T
ENST00000585489.1:c.*520G>T	ENSP00000466202.1:n.*520G>T
NM_000151.3:c.*54G>T	NP_000142.2:n.*54G>T
NM_001270397.1:c.*520G>T	NP_001257326.1:n.*520G>T
NM_000151.4:c.*54G>T MANE Select	NP_000142.2:n.*54G>T
NM_001270397.2:c.*520G>T	NP_001257326.1:n.*520G>T