Canonical Allele Identifier: CA2658466
Gene: GYG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 383918
dbSNP Id: rs142784073

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.148994271C>G , CM000665.2:g.148994271C>G GRCh38
NC_000003.11:g.148712058C>G , CM000665.1:g.148712058C>G GRCh37
NC_000003.10:g.150194748C>G NCBI36
NG_027677.1:g.7864C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000345003.9:c.137C>G MANE Select ENSP00000340736.4:p.Ser46Cys
ENST00000296048.10:c.137C>G ENSP00000296048.6:p.Ser46Cys
ENST00000345003.8:c.137C>G ENSP00000340736.4:p.Ser46Cys
ENST00000461191.1:c.137C>G ENSP00000420247.1:p.Ser46Cys
ENST00000465547.1:n.49+11C>G
ENST00000473005.1:c.-2C>G ENSP00000417671.1:p.=
ENST00000478067.1:n.238C>G
ENST00000483267.5:c.137C>G ENSP00000419499.1:p.Ser46Cys
ENST00000484197.5:c.137C>G ENSP00000420683.1:p.Ser46Cys
ENST00000492285.6:c.-2C>G ENSP00000418297.2:p.=
ENST00000627418.2:c.137C>G ENSP00000486061.1:p.Ser46Cys
NM_001184720.1:c.137C>G NP_001171649.1:p.Ser46Cys
NM_001184721.1:c.137C>G NP_001171650.1:p.Ser46Cys
NM_004130.3:c.137C>G NP_004121.2:p.Ser46Cys
XM_017006275.1:c.-34-2031C>G XP_016861764.1:p.=
NM_004130.4:c.137C>G MANE Select NP_004121.2:p.Ser46Cys
NM_001184720.2:c.137C>G NP_001171649.1:p.Ser46Cys
NM_001184721.2:c.137C>G NP_001171650.1:p.Ser46Cys