Canonical Allele Identifier: CA354903381

Gene: GYG1

Linked Data

• MyVariant Identifiers: chr3:g.148714665T>A (hg19) ; chr3:g.148996878T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148996878T>A , CM000665.2:g.148996878T>A	GRCh38
NC_000003.11:g.148714665T>A , CM000665.1:g.148714665T>A	GRCh37
NC_000003.10:g.150197355T>A	NCBI36
NG_027677.1:g.10471T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.455T>A MANE Select	ENSP00000340736.4:p.Leu152His
ENST00000296048.10:c.455T>A	ENSP00000296048.6:p.Leu152His
ENST00000345003.8:c.455T>A	ENSP00000340736.4:p.Leu152His
ENST00000461191.1:c.455T>A	ENSP00000420247.1:p.Leu152His
ENST00000483267.5:c.455T>A	ENSP00000419499.1:p.Leu152His
ENST00000484197.5:c.455T>A	ENSP00000420683.1:p.Leu152His
ENST00000492285.6:c.317T>A	ENSP00000418297.2:p.Leu106His
ENST00000497528.5:n.48T>A
ENST00000627418.2:c.455T>A	ENSP00000486061.1:p.Leu152His
NM_001184720.1:c.455T>A	NP_001171649.1:p.Leu152His
NM_001184721.1:c.455T>A	NP_001171650.1:p.Leu152His
NM_004130.3:c.455T>A	NP_004121.2:p.Leu152His
XM_017006275.1:c.278T>A	XP_016861764.1:p.Leu93His
NM_004130.4:c.455T>A MANE Select	NP_004121.2:p.Leu152His
NM_001184720.2:c.455T>A	NP_001171649.1:p.Leu152His
NM_001184721.2:c.455T>A	NP_001171650.1:p.Leu152His