Canonical Allele Identifier: CA2658544

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148996771C>G , CM000665.2:g.148996771C>G	GRCh38
NC_000003.11:g.148714558C>G , CM000665.1:g.148714558C>G	GRCh37
NC_000003.10:g.150197248C>G	NCBI36
NG_027677.1:g.10364C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.348C>G MANE Select	ENSP00000340736.4:p.Asp116Glu
ENST00000296048.10:c.348C>G	ENSP00000296048.6:p.Asp116Glu
ENST00000345003.8:c.348C>G	ENSP00000340736.4:p.Asp116Glu
ENST00000461191.1:c.348C>G	ENSP00000420247.1:p.Asp116Glu
ENST00000478067.1:n.400C>G
ENST00000483267.5:c.348C>G	ENSP00000419499.1:p.Asp116Glu
ENST00000484197.5:c.348C>G	ENSP00000420683.1:p.Asp116Glu
ENST00000492285.6:c.210C>G	ENSP00000418297.2:p.Asp70Glu
ENST00000627418.2:c.348C>G	ENSP00000486061.1:p.Asp116Glu
NM_001184720.1:c.348C>G	NP_001171649.1:p.Asp116Glu
NM_001184721.1:c.348C>G	NP_001171650.1:p.Asp116Glu
NM_004130.3:c.348C>G	NP_004121.2:p.Asp116Glu
XM_017006275.1:c.171C>G	XP_016861764.1:p.Asp57Glu
NM_004130.4:c.348C>G MANE Select	NP_004121.2:p.Asp116Glu
NM_001184720.2:c.348C>G	NP_001171649.1:p.Asp116Glu
NM_001184721.2:c.348C>G	NP_001171650.1:p.Asp116Glu