Canonical Allele Identifier: CA900449803

Gene: GYG1

Linked Data

• dbSNP Id: rs1352561577
• gnomAD v3: 3-148994308-A-T
• gnomAD v4: 3-148994308-A-T
• MyVariant Identifiers: chr3:g.148712095A>T (hg19) ; chr3:g.148994308A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994308A>T , CM000665.2:g.148994308A>T	GRCh38
NC_000003.11:g.148712095A>T , CM000665.1:g.148712095A>T	GRCh37
NC_000003.10:g.150194785A>T	NCBI36
NG_027677.1:g.7901A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.143+31A>T MANE Select	ENSP00000340736.4:n.143+31A>T
ENST00000296048.10:c.143+31A>T	ENSP00000296048.6:n.143+31A>T
ENST00000345003.8:c.143+31A>T	ENSP00000340736.4:n.143+31A>T
ENST00000461191.1:c.143+31A>T	ENSP00000420247.1:n.143+31A>T
ENST00000465547.1:n.49+48A>T
ENST00000473005.1:c.5+31A>T	ENSP00000417671.1:n.5+31A>T
ENST00000478067.1:n.244+31A>T
ENST00000483267.5:c.143+31A>T	ENSP00000419499.1:n.143+31A>T
ENST00000484197.5:c.143+31A>T	ENSP00000420683.1:n.143+31A>T
ENST00000492285.6:c.5+31A>T	ENSP00000418297.2:n.5+31A>T
ENST00000627418.2:c.143+31A>T	ENSP00000486061.1:n.143+31A>T
NM_001184720.1:c.143+31A>T	NP_001171649.1:n.143+31A>T
NM_001184721.1:c.143+31A>T	NP_001171650.1:n.143+31A>T
NM_004130.3:c.143+31A>T	NP_004121.2:n.143+31A>T
XM_017006275.1:c.-34-1994A>T	XP_016861764.1:n.-34-1994A>T
NM_004130.4:c.143+31A>T MANE Select	NP_004121.2:n.143+31A>T
NM_001184720.2:c.143+31A>T	NP_001171649.1:n.143+31A>T
NM_001184721.2:c.143+31A>T	NP_001171650.1:n.143+31A>T