Canonical Allele Identifier: CA354905219

Gene: GYG1

Linked Data

• MyVariant Identifiers: chr3:g.148727125C>A (hg19) ; chr3:g.149009338C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009338C>A , CM000665.2:g.149009338C>A	GRCh38
NC_000003.11:g.148727125C>A , CM000665.1:g.148727125C>A	GRCh37
NC_000003.10:g.150209815C>A	NCBI36
NG_027677.1:g.22931C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.544C>A MANE Select	ENSP00000340736.4:p.His182Asn
ENST00000296048.10:c.544C>A	ENSP00000296048.6:p.His182Asn
ENST00000345003.8:c.544C>A	ENSP00000340736.4:p.His182Asn
ENST00000461191.1:c.532C>A	ENSP00000420247.1:p.His178Asn
ENST00000469873.1:n.458C>A
ENST00000479119.1:n.160C>A
ENST00000483267.5:c.469+12446C>A	ENSP00000419499.1:n.469+12446C>A
ENST00000484197.5:c.544C>A	ENSP00000420683.1:p.His182Asn
ENST00000497528.5:n.183C>A
ENST00000627418.2:c.469+12446C>A	ENSP00000486061.1:n.469+12446C>A
NM_001184720.1:c.544C>A	NP_001171649.1:p.His182Asn
NM_001184721.1:c.544C>A	NP_001171650.1:p.His182Asn
NM_004130.3:c.544C>A	NP_004121.2:p.His182Asn
XM_017006275.1:c.367C>A	XP_016861764.1:p.His123Asn
XM_017006276.1:c.82C>A	XP_016861765.1:p.His28Asn
NM_004130.4:c.544C>A MANE Select	NP_004121.2:p.His182Asn
NM_001184720.2:c.544C>A	NP_001171649.1:p.His182Asn
NM_001184721.2:c.544C>A	NP_001171650.1:p.His182Asn