Canonical Allele Identifier: CA354905475
Gene: GYG1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.149009402T>C , CM000665.2:g.149009402T>C GRCh38
NC_000003.11:g.148727189T>C , CM000665.1:g.148727189T>C GRCh37
NC_000003.10:g.150209879T>C NCBI36
NG_027677.1:g.22995T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000345003.9:c.608T>C MANE Select ENSP00000340736.4:p.Val203Ala
ENST00000296048.10:c.608T>C ENSP00000296048.6:p.Val203Ala
ENST00000345003.8:c.608T>C ENSP00000340736.4:p.Val203Ala
ENST00000461191.1:c.596T>C ENSP00000420247.1:p.Val199Ala
ENST00000469873.1:n.522T>C
ENST00000479119.1:n.224T>C
ENST00000483267.5:c.469+12510T>C ENSP00000419499.1:n.469+12510T>C
ENST00000484197.5:c.608T>C ENSP00000420683.1:p.Val203Ala
ENST00000627418.2:c.469+12510T>C ENSP00000486061.1:n.469+12510T>C
NM_001184720.1:c.608T>C NP_001171649.1:p.Val203Ala
NM_001184721.1:c.608T>C NP_001171650.1:p.Val203Ala
NM_004130.3:c.608T>C NP_004121.2:p.Val203Ala
XM_017006275.1:c.431T>C XP_016861764.1:p.Val144Ala
XM_017006276.1:c.146T>C XP_016861765.1:p.Val49Ala
NM_004130.4:c.608T>C MANE Select NP_004121.2:p.Val203Ala
NM_001184720.2:c.608T>C NP_001171649.1:p.Val203Ala
NM_001184721.2:c.608T>C NP_001171650.1:p.Val203Ala