Canonical Allele Identifier: CA85504567

Gene: GYG1

Linked Data

• dbSNP Id: rs900217907
• gnomAD v2: 3-148727179-G-A
• gnomAD v4: 3-149009392-G-A
• MyVariant Identifiers: chr3:g.148727179G>A (hg19) ; chr3:g.149009392G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009392G>A , CM000665.2:g.149009392G>A	GRCh38
NC_000003.11:g.148727179G>A , CM000665.1:g.148727179G>A	GRCh37
NC_000003.10:g.150209869G>A	NCBI36
NG_027677.1:g.22985G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.598G>A MANE Select	ENSP00000340736.4:p.Ala200Thr
ENST00000296048.10:c.598G>A	ENSP00000296048.6:p.Ala200Thr
ENST00000345003.8:c.598G>A	ENSP00000340736.4:p.Ala200Thr
ENST00000461191.1:c.586G>A	ENSP00000420247.1:p.Ala196Thr
ENST00000469873.1:n.512G>A
ENST00000479119.1:n.214G>A
ENST00000483267.5:c.469+12500G>A	ENSP00000419499.1:n.469+12500G>A
ENST00000484197.5:c.598G>A	ENSP00000420683.1:p.Ala200Thr
ENST00000627418.2:c.469+12500G>A	ENSP00000486061.1:n.469+12500G>A
NM_001184720.1:c.598G>A	NP_001171649.1:p.Ala200Thr
NM_001184721.1:c.598G>A	NP_001171650.1:p.Ala200Thr
NM_004130.3:c.598G>A	NP_004121.2:p.Ala200Thr
XM_017006275.1:c.421G>A	XP_016861764.1:p.Ala141Thr
XM_017006276.1:c.136G>A	XP_016861765.1:p.Ala46Thr
NM_004130.4:c.598G>A MANE Select	NP_004121.2:p.Ala200Thr
NM_001184720.2:c.598G>A	NP_001171649.1:p.Ala200Thr
NM_001184721.2:c.598G>A	NP_001171650.1:p.Ala200Thr