Canonical Allele Identifier: CA2668126515

Gene: GYG1

Linked Data

• gnomAD v4: 3-149009250-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009250C>A , CM000665.2:g.149009250C>A	GRCh38
NC_000003.11:g.148727037C>A , CM000665.1:g.148727037C>A	GRCh37
NC_000003.10:g.150209727C>A	NCBI36
NG_027677.1:g.22843C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.482-26C>A MANE Select	ENSP00000340736.4:n.482-26C>A
ENST00000296048.10:c.482-26C>A	ENSP00000296048.6:n.482-26C>A
ENST00000345003.8:c.482-26C>A	ENSP00000340736.4:n.482-26C>A
ENST00000461191.1:c.470-26C>A	ENSP00000420247.1:n.470-26C>A
ENST00000469873.1:n.370C>A
ENST00000479119.1:n.98-26C>A
ENST00000483267.5:c.469+12358C>A	ENSP00000419499.1:n.469+12358C>A
ENST00000484197.5:c.482-26C>A	ENSP00000420683.1:n.482-26C>A
ENST00000497528.5:n.121-26C>A
ENST00000627418.2:c.469+12358C>A	ENSP00000486061.1:n.469+12358C>A
NM_001184720.1:c.482-26C>A	NP_001171649.1:n.482-26C>A
NM_001184721.1:c.482-26C>A	NP_001171650.1:n.482-26C>A
NM_004130.3:c.482-26C>A	NP_004121.2:n.482-26C>A
XM_017006275.1:c.305-26C>A	XP_016861764.1:n.305-26C>A
XM_017006276.1:c.20-26C>A	XP_016861765.1:n.20-26C>A
NM_004130.4:c.482-26C>A MANE Select	NP_004121.2:n.482-26C>A
NM_001184720.2:c.482-26C>A	NP_001171649.1:n.482-26C>A
NM_001184721.2:c.482-26C>A	NP_001171650.1:n.482-26C>A