Canonical Allele Identifier: CA2658460
Gene: GYG1 HGNC NCBI

Linked Data

dbSNP Id: rs772891547

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.148994259A>G , CM000665.2:g.148994259A>G GRCh38
NC_000003.11:g.148712046A>G , CM000665.1:g.148712046A>G GRCh37
NC_000003.10:g.150194736A>G NCBI36
NG_027677.1:g.7852A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000345003.9:c.125A>G MANE Select ENSP00000340736.4:p.Gln42Arg
ENST00000296048.10:c.125A>G ENSP00000296048.6:p.Gln42Arg
ENST00000345003.8:c.125A>G ENSP00000340736.4:p.Gln42Arg
ENST00000461191.1:c.125A>G ENSP00000420247.1:p.Gln42Arg
ENST00000465547.1:n.48A>G
ENST00000473005.1:c.-14A>G ENSP00000417671.1:n.-14A>G
ENST00000478067.1:n.226A>G
ENST00000483267.5:c.125A>G ENSP00000419499.1:p.Gln42Arg
ENST00000484197.5:c.125A>G ENSP00000420683.1:p.Gln42Arg
ENST00000492285.6:c.-14A>G ENSP00000418297.2:n.-14A>G
ENST00000627418.2:c.125A>G ENSP00000486061.1:p.Gln42Arg
NM_001184720.1:c.125A>G NP_001171649.1:p.Gln42Arg
NM_001184721.1:c.125A>G NP_001171650.1:p.Gln42Arg
NM_004130.3:c.125A>G NP_004121.2:p.Gln42Arg
XM_017006275.1:c.-34-2043A>G XP_016861764.1:n.-34-2043A>G
NM_004130.4:c.125A>G MANE Select NP_004121.2:p.Gln42Arg
NM_001184720.2:c.125A>G NP_001171649.1:p.Gln42Arg
NM_001184721.2:c.125A>G NP_001171650.1:p.Gln42Arg