Canonical Allele Identifier: CA1410031326
Gene: GYG1 HGNC NCBI

Linked Data

dbSNP Id: rs1713579837

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149009255T>C , CM000665.2:g.149009255T>C GRCh38
NC_000003.11:g.148727042T>C , CM000665.1:g.148727042T>C GRCh37
NC_000003.10:g.150209732T>C NCBI36
NG_027677.1:g.22848T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000345003.9:c.482-21T>C MANE Select ENSP00000340736.4:n.482-21T>C
ENST00000296048.10:c.482-21T>C ENSP00000296048.6:n.482-21T>C
ENST00000345003.8:c.482-21T>C ENSP00000340736.4:n.482-21T>C
ENST00000461191.1:c.470-21T>C ENSP00000420247.1:n.470-21T>C
ENST00000469873.1:n.375T>C
ENST00000479119.1:n.98-21T>C
ENST00000483267.5:c.469+12363T>C ENSP00000419499.1:n.469+12363T>C
ENST00000484197.5:c.482-21T>C ENSP00000420683.1:n.482-21T>C
ENST00000497528.5:n.121-21T>C
ENST00000627418.2:c.469+12363T>C ENSP00000486061.1:n.469+12363T>C
NM_001184720.1:c.482-21T>C NP_001171649.1:n.482-21T>C
NM_001184721.1:c.482-21T>C NP_001171650.1:n.482-21T>C
NM_004130.3:c.482-21T>C NP_004121.2:n.482-21T>C
XM_017006275.1:c.305-21T>C XP_016861764.1:n.305-21T>C
XM_017006276.1:c.20-21T>C XP_016861765.1:n.20-21T>C
NM_004130.4:c.482-21T>C MANE Select NP_004121.2:n.482-21T>C
NM_001184720.2:c.482-21T>C NP_001171649.1:n.482-21T>C
NM_001184721.2:c.482-21T>C NP_001171650.1:n.482-21T>C