Canonical Allele Identifier: CA354903387

Gene: GYG1

Linked Data

• gnomAD v4: 3-148996881-C-T
• MyVariant Identifiers: chr3:g.148714668C>T (hg19) ; chr3:g.148996881C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148996881C>T , CM000665.2:g.148996881C>T	GRCh38
NC_000003.11:g.148714668C>T , CM000665.1:g.148714668C>T	GRCh37
NC_000003.10:g.150197358C>T	NCBI36
NG_027677.1:g.10474C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.458C>T MANE Select	ENSP00000340736.4:p.Ala153Val
ENST00000296048.10:c.458C>T	ENSP00000296048.6:p.Ala153Val
ENST00000345003.8:c.458C>T	ENSP00000340736.4:p.Ala153Val
ENST00000461191.1:c.458C>T	ENSP00000420247.1:p.Ala153Val
ENST00000483267.5:c.458C>T	ENSP00000419499.1:p.Ala153Val
ENST00000484197.5:c.458C>T	ENSP00000420683.1:p.Ala153Val
ENST00000492285.6:c.320C>T	ENSP00000418297.2:p.Ala107Val
ENST00000497528.5:n.51C>T
ENST00000627418.2:c.458C>T	ENSP00000486061.1:p.Ala153Val
NM_001184720.1:c.458C>T	NP_001171649.1:p.Ala153Val
NM_001184721.1:c.458C>T	NP_001171650.1:p.Ala153Val
NM_004130.3:c.458C>T	NP_004121.2:p.Ala153Val
XM_017006275.1:c.281C>T	XP_016861764.1:p.Ala94Val
NM_004130.4:c.458C>T MANE Select	NP_004121.2:p.Ala153Val
NM_001184720.2:c.458C>T	NP_001171649.1:p.Ala153Val
NM_001184721.2:c.458C>T	NP_001171650.1:p.Ala153Val