Canonical Allele Identifier: CA2658454

Gene: GYG1

Linked Data

• dbSNP Id: rs779480354
• ExAC: 3:148712016 C / G
• gnomAD v2: 3-148712016-C-G
• gnomAD v4: 3-148994229-C-G
• MyVariant Identifiers: chr3:g.148712016C>G (hg19) ; chr3:g.148994229C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994229C>G , CM000665.2:g.148994229C>G	GRCh38
NC_000003.11:g.148712016C>G , CM000665.1:g.148712016C>G	GRCh37
NC_000003.10:g.150194706C>G	NCBI36
NG_027677.1:g.7822C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.95C>G MANE Select	ENSP00000340736.4:p.Thr32Ser
ENST00000296048.10:c.95C>G	ENSP00000296048.6:p.Thr32Ser
ENST00000345003.8:c.95C>G	ENSP00000340736.4:p.Thr32Ser
ENST00000461191.1:c.95C>G	ENSP00000420247.1:p.Thr32Ser
ENST00000465547.1:n.18C>G
ENST00000473005.1:c.-44C>G	ENSP00000417671.1:n.-44C>G
ENST00000478067.1:n.196C>G
ENST00000483267.5:c.95C>G	ENSP00000419499.1:p.Thr32Ser
ENST00000484197.5:c.95C>G	ENSP00000420683.1:p.Thr32Ser
ENST00000492285.6:c.-44C>G	ENSP00000418297.2:n.-44C>G
ENST00000627418.2:c.95C>G	ENSP00000486061.1:p.Thr32Ser
NM_001184720.1:c.95C>G	NP_001171649.1:p.Thr32Ser
NM_001184721.1:c.95C>G	NP_001171650.1:p.Thr32Ser
NM_004130.3:c.95C>G	NP_004121.2:p.Thr32Ser
XM_017006275.1:c.-34-2073C>G	XP_016861764.1:n.-34-2073C>G
NM_004130.4:c.95C>G MANE Select	NP_004121.2:p.Thr32Ser
NM_001184720.2:c.95C>G	NP_001171649.1:p.Thr32Ser
NM_001184721.2:c.95C>G	NP_001171650.1:p.Thr32Ser