Canonical Allele Identifier: CA8587466

Gene: G6PC1

Linked Data

• dbSNP Id: rs201423586
• ExAC: 17:41052871 C / T
• gnomAD v2: 17-41052871-C-T
• gnomAD v3: 17-42900854-C-T
• gnomAD v4: 17-42900854-C-T
• MyVariant Identifiers: chr17:g.41052871C>T (hg19) ; chr17:g.42900854C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42900854C>T , CM000679.2:g.42900854C>T	GRCh38
NC_000017.10:g.41052871C>T , CM000679.1:g.41052871C>T	GRCh37
NC_000017.9:g.38306397C>T	NCBI36
NG_011808.1:g.5057C>T , LRG_147:g.5057C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.-23C>T MANE Select	ENSP00000253801.1:n.-23C>T
ENST00000253801.6:c.-23C>T	ENSP00000253801.1:n.-23C>T
ENST00000585489.1:c.-23C>T	ENSP00000466202.1:n.-23C>T
ENST00000588481.1:n.43C>T
ENST00000592383.5:c.-23C>T	ENSP00000465958.1:n.-23C>T
NM_000151.3:c.-23C>T	NP_000142.2:n.-23C>T
NM_001270397.1:c.-23C>T	NP_001257326.1:n.-23C>T
NM_000151.4:c.-23C>T MANE Select	NP_000142.2:n.-23C>T
NM_001270397.2:c.-23C>T	NP_001257326.1:n.-23C>T