Canonical Allele Identifier: CA399654917

Gene: G6PC1

Linked Data

• dbSNP Id: rs1374760607
• gnomAD v2: 17-41061380-A-G
• gnomAD v4: 17-42909363-A-G
• MyVariant Identifiers: chr17:g.41061380A>G (hg19) ; chr17:g.42909363A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42909363A>G , CM000679.2:g.42909363A>G	GRCh38
NC_000017.10:g.41061380A>G , CM000679.1:g.41061380A>G	GRCh37
NC_000017.9:g.38314906A>G	NCBI36
NG_011808.1:g.13566A>G , LRG_147:g.13566A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000253801.7:c.507A>G MANE Select	ENSP00000253801.1:p.Ser169=
ENST00000253801.6:c.507A>G	ENSP00000253801.1:p.Ser169=
ENST00000585489.1:c.447-1552A>G	ENSP00000466202.1:n.447-1552A>G
ENST00000592383.5:c.430A>G	ENSP00000465958.1:p.Thr144Ala
NM_000151.3:c.507A>G	NP_000142.2:p.Ser169=
NM_001270397.1:c.430A>G	NP_001257326.1:p.Thr144Ala
NM_000151.4:c.507A>G MANE Select	NP_000142.2:p.Ser169=
NM_001270397.2:c.430A>G	NP_001257326.1:p.Thr144Ala