Canonical Allele Identifier: CA354909177

Gene: GYG1

Linked Data

• ClinVar Variation Id: 2637494
• ClinVar RCV Id: RCV003404792 ; RCV003778344
• dbSNP Id: rs1712472176
• gnomAD v4: 3-148991649-T-C
• MyVariant Identifiers: chr3:g.148709436T>C (hg19) ; chr3:g.148991649T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148991649T>C , CM000665.2:g.148991649T>C	GRCh38
NC_000003.11:g.148709436T>C , CM000665.1:g.148709436T>C	GRCh37
NC_000003.10:g.150192126T>C	NCBI36
NG_027677.1:g.5242T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.7+2T>C MANE Select	ENSP00000340736.4:n.7+2T>C
ENST00000296048.10:c.7+2T>C	ENSP00000296048.6:n.7+2T>C
ENST00000345003.8:c.7+2T>C	ENSP00000340736.4:n.7+2T>C
ENST00000461191.1:c.7+2T>C	ENSP00000420247.1:n.7+2T>C
ENST00000478067.1:n.108+2T>C
ENST00000483267.5:c.7+2T>C	ENSP00000419499.1:n.7+2T>C
ENST00000484197.5:c.7+2T>C	ENSP00000420683.1:n.7+2T>C
ENST00000492285.6:c.-247+2T>C	ENSP00000418297.2:n.-247+2T>C
ENST00000627418.2:c.7+2T>C	ENSP00000486061.1:n.7+2T>C
NM_001184720.1:c.7+2T>C	NP_001171649.1:n.7+2T>C
NM_001184721.1:c.7+2T>C	NP_001171650.1:n.7+2T>C
NM_004130.3:c.7+2T>C	NP_004121.2:n.7+2T>C
XM_017006275.1:c.-35+2T>C	XP_016861764.1:n.-35+2T>C
NM_004130.4:c.7+2T>C MANE Select	NP_004121.2:n.7+2T>C
NM_001184720.2:c.7+2T>C	NP_001171649.1:n.7+2T>C
NM_001184721.2:c.7+2T>C	NP_001171650.1:n.7+2T>C