Canonical Allele Identifier: CA1410025611
Community Standard Title: NM_004130.4(GYG1):c.304G= (p.Asp102=)
Gene: GYG1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.148996462G= , CM000665.2:g.148996462G= GRCh38
NC_000003.11:g.148714249G= , CM000665.1:g.148714249G= GRCh37
NC_000003.10:g.150196939G= NCBI36
NG_027677.1:g.10055G=

Transcript Alleles

HGVS Amino-acid Change
NM_004130.4:c.304G= MANE Select NP_004121.2:p.Asp102=
ENST00000345003.9:c.304G= MANE Select ENSP00000340736.4:p.Asp102=
NM_001184720.1:c.304G= NP_001171649.1:p.Asp102=
NM_001184720.2:c.304G= NP_001171649.1:p.Asp102=
NM_001184721.1:c.304G= NP_001171650.1:p.Asp102=
NM_001184721.2:c.304G= NP_001171650.1:p.Asp102=
NM_004130.3:c.304G= NP_004121.2:p.Asp102=
ENST00000296048.10:c.304G= ENSP00000296048.6:p.Asp102=
ENST00000345003.8:c.304G= ENSP00000340736.4:p.Asp102=
ENST00000461191.1:c.304G= ENSP00000420247.1:p.Asp102=
ENST00000465547.1:n.197G=
ENST00000473005.1:c.166G= ENSP00000417671.1:p.Asp56=
ENST00000478067.1:n.370+35G=
ENST00000483267.5:c.304G= ENSP00000419499.1:p.Asp102=
ENST00000484197.5:c.304G= ENSP00000420683.1:p.Asp102=
ENST00000492285.6:c.166G= ENSP00000418297.2:p.Asp56=
ENST00000627418.2:c.304G= ENSP00000486061.1:p.Asp102=
XM_017006275.1:c.127G= XP_016861764.1:p.Asp43=