Canonical Allele Identifier: CA85494066

Gene: GYG1

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148997053A>G , CM000665.2:g.148997053A>G	GRCh38
NC_000003.11:g.148714840A>G , CM000665.1:g.148714840A>G	GRCh37
NC_000003.10:g.150197530A>G	NCBI36
NG_027677.1:g.10646A>G

Transcript Alleles

HGVS	Amino-acid Change
NM_004130.4:c.481+149A>G MANE Select	NP_004121.2:n.481+149A>G
ENST00000345003.9:c.481+149A>G MANE Select	ENSP00000340736.4:n.481+149A>G
NM_001184720.1:c.481+149A>G	NP_001171649.1:n.481+149A>G
NM_001184720.2:c.481+149A>G	NP_001171649.1:n.481+149A>G
NM_001184721.1:c.481+149A>G	NP_001171650.1:n.481+149A>G
NM_001184721.2:c.481+149A>G	NP_001171650.1:n.481+149A>G
NM_004130.3:c.481+149A>G	NP_004121.2:n.481+149A>G
ENST00000296048.10:c.481+149A>G	ENSP00000296048.6:n.481+149A>G
ENST00000345003.8:c.481+149A>G	ENSP00000340736.4:n.481+149A>G
ENST00000461191.1:c.469+161A>G	ENSP00000420247.1:n.469+161A>G
ENST00000483267.5:c.469+161A>G	ENSP00000419499.1:n.469+161A>G
ENST00000484197.5:c.481+149A>G	ENSP00000420683.1:n.481+149A>G
ENST00000497528.5:n.74+149A>G
ENST00000627418.2:c.469+161A>G	ENSP00000486061.1:n.469+161A>G
XM_017006275.1:c.304+149A>G	XP_016861764.1:n.304+149A>G