Canonical Allele Identifier: CA175125
Gene: GYG1 HGNC NCBI

Linked Data

ClinVar Variation Id: 162661
dbSNP Id: rs370652040

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.148994280G>C , CM000665.2:g.148994280G>C GRCh38
NC_000003.11:g.148712067G>C , CM000665.1:g.148712067G>C GRCh37
NC_000003.10:g.150194757G>C NCBI36
NG_027677.1:g.7873G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000345003.9:c.143+3G>C MANE Select ENSP00000340736.4:p.=
ENST00000296048.10:c.143+3G>C ENSP00000296048.6:p.=
ENST00000345003.8:c.143+3G>C ENSP00000340736.4:p.=
ENST00000461191.1:c.143+3G>C ENSP00000420247.1:p.=
ENST00000465547.1:n.49+20G>C
ENST00000473005.1:c.5+3G>C ENSP00000417671.1:p.=
ENST00000478067.1:n.244+3G>C
ENST00000483267.5:c.143+3G>C ENSP00000419499.1:p.=
ENST00000484197.5:c.143+3G>C ENSP00000420683.1:p.=
ENST00000492285.6:c.5+3G>C ENSP00000418297.2:p.=
ENST00000627418.2:c.143+3G>C ENSP00000486061.1:p.=
NM_001184720.1:c.143+3G>C NP_001171649.1:p.=
NM_001184721.1:c.143+3G>C NP_001171650.1:p.=
NM_004130.3:c.143+3G>C NP_004121.2:p.=
XM_017006275.1:c.-34-2022G>C XP_016861764.1:p.=
NM_004130.4:c.143+3G>C MANE Select NP_004121.2:p.=
NM_001184720.2:c.143+3G>C NP_001171649.1:p.=
NM_001184721.2:c.143+3G>C NP_001171650.1:p.=