Canonical Allele Identifier: CA354904964

Gene: GYG1

Linked Data

• gnomAD v4: 3-149009287-G-A
• MyVariant Identifiers: chr3:g.148727074G>A (hg19) ; chr3:g.149009287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009287G>A , CM000665.2:g.149009287G>A	GRCh38
NC_000003.11:g.148727074G>A , CM000665.1:g.148727074G>A	GRCh37
NC_000003.10:g.150209764G>A	NCBI36
NG_027677.1:g.22880G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.493G>A MANE Select	ENSP00000340736.4:p.Gly165Ser
ENST00000296048.10:c.493G>A	ENSP00000296048.6:p.Gly165Ser
ENST00000345003.8:c.493G>A	ENSP00000340736.4:p.Gly165Ser
ENST00000461191.1:c.481G>A	ENSP00000420247.1:p.Gly161Ser
ENST00000469873.1:n.407G>A
ENST00000479119.1:n.109G>A
ENST00000483267.5:c.469+12395G>A	ENSP00000419499.1:n.469+12395G>A
ENST00000484197.5:c.493G>A	ENSP00000420683.1:p.Gly165Ser
ENST00000497528.5:n.132G>A
ENST00000627418.2:c.469+12395G>A	ENSP00000486061.1:n.469+12395G>A
NM_001184720.1:c.493G>A	NP_001171649.1:p.Gly165Ser
NM_001184721.1:c.493G>A	NP_001171650.1:p.Gly165Ser
NM_004130.3:c.493G>A	NP_004121.2:p.Gly165Ser
XM_017006275.1:c.316G>A	XP_016861764.1:p.Gly106Ser
XM_017006276.1:c.31G>A	XP_016861765.1:p.Gly11Ser
NM_004130.4:c.493G>A MANE Select	NP_004121.2:p.Gly165Ser
NM_001184720.2:c.493G>A	NP_001171649.1:p.Gly165Ser
NM_001184721.2:c.493G>A	NP_001171650.1:p.Gly165Ser