Canonical Allele Identifier: CA354905460

Gene: GYG1

Linked Data

• gnomAD v4: 3-149009400-A-C
• MyVariant Identifiers: chr3:g.148727187A>C (hg19) ; chr3:g.149009400A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149009400A>C , CM000665.2:g.149009400A>C	GRCh38
NC_000003.11:g.148727187A>C , CM000665.1:g.148727187A>C	GRCh37
NC_000003.10:g.150209877A>C	NCBI36
NG_027677.1:g.22993A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000345003.9:c.606A>C MANE Select	ENSP00000340736.4:p.Lys202Asn
ENST00000296048.10:c.606A>C	ENSP00000296048.6:p.Lys202Asn
ENST00000345003.8:c.606A>C	ENSP00000340736.4:p.Lys202Asn
ENST00000461191.1:c.594A>C	ENSP00000420247.1:p.Lys198Asn
ENST00000469873.1:n.520A>C
ENST00000479119.1:n.222A>C
ENST00000483267.5:c.469+12508A>C	ENSP00000419499.1:n.469+12508A>C
ENST00000484197.5:c.606A>C	ENSP00000420683.1:p.Lys202Asn
ENST00000627418.2:c.469+12508A>C	ENSP00000486061.1:n.469+12508A>C
NM_001184720.1:c.606A>C	NP_001171649.1:p.Lys202Asn
NM_001184721.1:c.606A>C	NP_001171650.1:p.Lys202Asn
NM_004130.3:c.606A>C	NP_004121.2:p.Lys202Asn
XM_017006275.1:c.429A>C	XP_016861764.1:p.Lys143Asn
XM_017006276.1:c.144A>C	XP_016861765.1:p.Lys48Asn
NM_004130.4:c.606A>C MANE Select	NP_004121.2:p.Lys202Asn
NM_001184720.2:c.606A>C	NP_001171649.1:p.Lys202Asn
NM_001184721.2:c.606A>C	NP_001171650.1:p.Lys202Asn