Canonical Allele Identifier: CA436197185

Gene: GYG1

Linked Data

• ClinVar Variation Id: 3031720
• ClinVar RCV Id: RCV003892295
• MyVariant Identifiers: chr3:g.148727109A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009322A>C , CM000665.2:g.149009322A>C	GRCh38
NC_000003.11:g.148727109A>C , CM000665.1:g.148727109A>C	GRCh37
NC_000003.10:g.150209799A>C	NCBI36
NG_027677.1:g.22915A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.528A>C MANE Select	ENSP00000340736.4:p.Thr176=
ENST00000296048.10:c.528A>C	ENSP00000296048.6:p.Thr176=
ENST00000345003.8:c.528A>C	ENSP00000340736.4:p.Thr176=
ENST00000461191.1:c.516A>C	ENSP00000420247.1:p.Thr172=
ENST00000469873.1:n.442A>C
ENST00000479119.1:n.144A>C
ENST00000483267.5:c.469+12430A>C	ENSP00000419499.1:n.469+12430A>C
ENST00000484197.5:c.528A>C	ENSP00000420683.1:p.Thr176=
ENST00000497528.5:n.167A>C
ENST00000627418.2:c.469+12430A>C	ENSP00000486061.1:n.469+12430A>C
NM_001184720.1:c.528A>C	NP_001171649.1:p.Thr176=
NM_001184721.1:c.528A>C	NP_001171650.1:p.Thr176=
NM_004130.3:c.528A>C	NP_004121.2:p.Thr176=
XM_017006275.1:c.351A>C	XP_016861764.1:p.Thr117=
XM_017006276.1:c.66A>C	XP_016861765.1:p.Thr22=
NM_004130.4:c.528A>C MANE Select	NP_004121.2:p.Thr176=
NM_001184720.2:c.528A>C	NP_001171649.1:p.Thr176=
NM_001184721.2:c.528A>C	NP_001171650.1:p.Thr176=