Canonical Allele Identifier: CA2658618

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.149024039C>T , CM000665.2:g.149024039C>T	GRCh38
NC_000003.11:g.148741826C>T , CM000665.1:g.148741826C>T	GRCh37
NC_000003.10:g.150224516C>T	NCBI36
NG_027677.1:g.37632C>T

Transcript Alleles

HGVS	Amino-acid Change
NM_004130.4:c.609-14C>T MANE Select	NP_004121.2:n.609-14C>T
ENST00000345003.9:c.609-14C>T MANE Select	ENSP00000340736.4:n.609-14C>T
NM_001184720.1:c.609-14C>T	NP_001171649.1:n.609-14C>T
NM_001184720.2:c.609-14C>T	NP_001171649.1:n.609-14C>T
NM_001184721.1:c.609-2721C>T	NP_001171650.1:n.609-2721C>T
NM_001184721.2:c.609-2721C>T	NP_001171650.1:n.609-2721C>T
NM_004130.3:c.609-14C>T	NP_004121.2:n.609-14C>T
ENST00000296048.10:c.609-14C>T	ENSP00000296048.6:n.609-14C>T
ENST00000345003.8:c.609-14C>T	ENSP00000340736.4:n.609-14C>T
ENST00000461191.1:c.597-14C>T	ENSP00000420247.1:n.597-14C>T
ENST00000469873.1:n.523-14C>T
ENST00000479119.1:n.225-2721C>T
ENST00000483267.5:c.470-14C>T	ENSP00000419499.1:n.470-14C>T
ENST00000484197.5:c.609-2721C>T	ENSP00000420683.1:n.609-2721C>T
ENST00000627418.2:c.470-14C>T	ENSP00000486061.1:n.470-14C>T
XM_017006275.1:c.432-14C>T	XP_016861764.1:n.432-14C>T
XM_017006276.1:c.147-14C>T	XP_016861765.1:n.147-14C>T