Canonical Allele Identifier: CA175125

Gene: GYG1

Linked Data

• ClinVar Variation Id: 162661
• ClinVar RCV Id: RCV000150098 ; RCV000387284 ; RCV001054146 ; RCV001090151
• dbSNP Id: rs370652040
• ExAC: 3:148712067 G / C
• gnomAD v2: 3-148712067-G-C
• gnomAD v3: 3-148994280-G-C
• gnomAD v4: 3-148994280-G-C
• MyVariant Identifiers: chr3:g.148712067G>C (hg19) ; chr3:g.148994280G>C (hg38)
• PubMed: PMID:25272951

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994280G>C , CM000665.2:g.148994280G>C	GRCh38
NC_000003.11:g.148712067G>C , CM000665.1:g.148712067G>C	GRCh37
NC_000003.10:g.150194757G>C	NCBI36
NG_027677.1:g.7873G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.143+3G>C MANE Select	ENSP00000340736.4:n.143+3G>C
ENST00000296048.10:c.143+3G>C	ENSP00000296048.6:n.143+3G>C
ENST00000345003.8:c.143+3G>C	ENSP00000340736.4:n.143+3G>C
ENST00000461191.1:c.143+3G>C	ENSP00000420247.1:n.143+3G>C
ENST00000465547.1:n.49+20G>C
ENST00000473005.1:c.5+3G>C	ENSP00000417671.1:n.5+3G>C
ENST00000478067.1:n.244+3G>C
ENST00000483267.5:c.143+3G>C	ENSP00000419499.1:n.143+3G>C
ENST00000484197.5:c.143+3G>C	ENSP00000420683.1:n.143+3G>C
ENST00000492285.6:c.5+3G>C	ENSP00000418297.2:n.5+3G>C
ENST00000627418.2:c.143+3G>C	ENSP00000486061.1:n.143+3G>C
NM_001184720.1:c.143+3G>C	NP_001171649.1:n.143+3G>C
NM_001184721.1:c.143+3G>C	NP_001171650.1:n.143+3G>C
NM_004130.3:c.143+3G>C	NP_004121.2:n.143+3G>C
XM_017006275.1:c.-34-2022G>C	XP_016861764.1:n.-34-2022G>C
NM_004130.4:c.143+3G>C MANE Select	NP_004121.2:n.143+3G>C
NM_001184720.2:c.143+3G>C	NP_001171649.1:n.143+3G>C
NM_001184721.2:c.143+3G>C	NP_001171650.1:n.143+3G>C