Canonical Allele Identifier: CA2658476

Gene: GYG1

Linked Data

• dbSNP Id: rs372647665
• ExAC: 3:148712101 T / G
• gnomAD v2: 3-148712101-T-G
• gnomAD v3: 3-148994314-T-G
• gnomAD v4: 3-148994314-T-G
• MyVariant Identifiers: chr3:g.148712101T>G (hg19) ; chr3:g.148994314T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994314T>G , CM000665.2:g.148994314T>G	GRCh38
NC_000003.11:g.148712101T>G , CM000665.1:g.148712101T>G	GRCh37
NC_000003.10:g.150194791T>G	NCBI36
NG_027677.1:g.7907T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.143+37T>G MANE Select	ENSP00000340736.4:n.143+37T>G
ENST00000296048.10:c.143+37T>G	ENSP00000296048.6:n.143+37T>G
ENST00000345003.8:c.143+37T>G	ENSP00000340736.4:n.143+37T>G
ENST00000461191.1:c.143+37T>G	ENSP00000420247.1:n.143+37T>G
ENST00000465547.1:n.49+54T>G
ENST00000473005.1:c.5+37T>G	ENSP00000417671.1:n.5+37T>G
ENST00000478067.1:n.244+37T>G
ENST00000483267.5:c.143+37T>G	ENSP00000419499.1:n.143+37T>G
ENST00000484197.5:c.143+37T>G	ENSP00000420683.1:n.143+37T>G
ENST00000492285.6:c.5+37T>G	ENSP00000418297.2:n.5+37T>G
ENST00000627418.2:c.143+37T>G	ENSP00000486061.1:n.143+37T>G
NM_001184720.1:c.143+37T>G	NP_001171649.1:n.143+37T>G
NM_001184721.1:c.143+37T>G	NP_001171650.1:n.143+37T>G
NM_004130.3:c.143+37T>G	NP_004121.2:n.143+37T>G
XM_017006275.1:c.-34-1988T>G	XP_016861764.1:n.-34-1988T>G
NM_004130.4:c.143+37T>G MANE Select	NP_004121.2:n.143+37T>G
NM_001184720.2:c.143+37T>G	NP_001171649.1:n.143+37T>G
NM_001184721.2:c.143+37T>G	NP_001171650.1:n.143+37T>G