Canonical Allele Identifier: CA2668124965

Gene: GYG1

Linked Data

• gnomAD v4: 3-148994315-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148994315C>G , CM000665.2:g.148994315C>G	GRCh38
NC_000003.11:g.148712102C>G , CM000665.1:g.148712102C>G	GRCh37
NC_000003.10:g.150194792C>G	NCBI36
NG_027677.1:g.7908C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.143+38C>G MANE Select	ENSP00000340736.4:n.143+38C>G
ENST00000296048.10:c.143+38C>G	ENSP00000296048.6:n.143+38C>G
ENST00000345003.8:c.143+38C>G	ENSP00000340736.4:n.143+38C>G
ENST00000461191.1:c.143+38C>G	ENSP00000420247.1:n.143+38C>G
ENST00000465547.1:n.49+55C>G
ENST00000473005.1:c.5+38C>G	ENSP00000417671.1:n.5+38C>G
ENST00000478067.1:n.244+38C>G
ENST00000483267.5:c.143+38C>G	ENSP00000419499.1:n.143+38C>G
ENST00000484197.5:c.143+38C>G	ENSP00000420683.1:n.143+38C>G
ENST00000492285.6:c.5+38C>G	ENSP00000418297.2:n.5+38C>G
ENST00000627418.2:c.143+38C>G	ENSP00000486061.1:n.143+38C>G
NM_001184720.1:c.143+38C>G	NP_001171649.1:n.143+38C>G
NM_001184721.1:c.143+38C>G	NP_001171650.1:n.143+38C>G
NM_004130.3:c.143+38C>G	NP_004121.2:n.143+38C>G
XM_017006275.1:c.-34-1987C>G	XP_016861764.1:n.-34-1987C>G
NM_004130.4:c.143+38C>G MANE Select	NP_004121.2:n.143+38C>G
NM_001184720.2:c.143+38C>G	NP_001171649.1:n.143+38C>G
NM_001184721.2:c.143+38C>G	NP_001171650.1:n.143+38C>G