Canonical Allele Identifier: CA2658571

Gene: GYG1

Linked Data

• ClinVar Variation Id: 2935601
• ClinVar RCV Id: RCV003793695
• dbSNP Id: rs747647995
• ExAC: 3:148727062 G / C
• gnomAD v2: 3-148727062-G-C
• gnomAD v3: 3-149009275-G-C
• gnomAD v4: 3-149009275-G-C
• MyVariant Identifiers: chr3:g.148727062G>C (hg19) ; chr3:g.149009275G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009275G>C , CM000665.2:g.149009275G>C	GRCh38
NC_000003.11:g.148727062G>C , CM000665.1:g.148727062G>C	GRCh37
NC_000003.10:g.150209752G>C	NCBI36
NG_027677.1:g.22868G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.482-1G>C MANE Select	ENSP00000340736.4:n.482-1G>C
ENST00000296048.10:c.482-1G>C	ENSP00000296048.6:n.482-1G>C
ENST00000345003.8:c.482-1G>C	ENSP00000340736.4:n.482-1G>C
ENST00000461191.1:c.470-1G>C	ENSP00000420247.1:n.470-1G>C
ENST00000469873.1:n.395G>C
ENST00000479119.1:n.98-1G>C
ENST00000483267.5:c.469+12383G>C	ENSP00000419499.1:n.469+12383G>C
ENST00000484197.5:c.482-1G>C	ENSP00000420683.1:n.482-1G>C
ENST00000497528.5:n.121-1G>C
ENST00000627418.2:c.469+12383G>C	ENSP00000486061.1:n.469+12383G>C
NM_001184720.1:c.482-1G>C	NP_001171649.1:n.482-1G>C
NM_001184721.1:c.482-1G>C	NP_001171650.1:n.482-1G>C
NM_004130.3:c.482-1G>C	NP_004121.2:n.482-1G>C
XM_017006275.1:c.305-1G>C	XP_016861764.1:n.305-1G>C
XM_017006276.1:c.20-1G>C	XP_016861765.1:n.20-1G>C
NM_004130.4:c.482-1G>C MANE Select	NP_004121.2:n.482-1G>C
NM_001184720.2:c.482-1G>C	NP_001171649.1:n.482-1G>C
NM_001184721.2:c.482-1G>C	NP_001171650.1:n.482-1G>C