Canonical Allele Identifier: CA900450802

Gene: GYG1

Linked Data

• dbSNP Id: rs1279175924
• gnomAD v3: 3-148996231-A-C
• gnomAD v4: 3-148996231-A-C
• MyVariant Identifiers: chr3:g.148714018A>C (hg19) ; chr3:g.148996231A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.148996231A>C , CM000665.2:g.148996231A>C	GRCh38
NC_000003.11:g.148714018A>C , CM000665.1:g.148714018A>C	GRCh37
NC_000003.10:g.150196708A>C	NCBI36
NG_027677.1:g.9824A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000345003.9:c.144-71A>C MANE Select	ENSP00000340736.4:n.144-71A>C
ENST00000296048.10:c.144-71A>C	ENSP00000296048.6:n.144-71A>C
ENST00000345003.8:c.144-71A>C	ENSP00000340736.4:n.144-71A>C
ENST00000461191.1:c.144-71A>C	ENSP00000420247.1:n.144-71A>C
ENST00000465547.1:n.50-84A>C
ENST00000473005.1:c.6-71A>C	ENSP00000417671.1:n.6-71A>C
ENST00000478067.1:n.245-71A>C
ENST00000483267.5:c.144-71A>C	ENSP00000419499.1:n.144-71A>C
ENST00000484197.5:c.144-71A>C	ENSP00000420683.1:n.144-71A>C
ENST00000492285.6:c.6-71A>C	ENSP00000418297.2:n.6-71A>C
ENST00000627418.2:c.144-71A>C	ENSP00000486061.1:n.144-71A>C
NM_001184720.1:c.144-71A>C	NP_001171649.1:n.144-71A>C
NM_001184721.1:c.144-71A>C	NP_001171650.1:n.144-71A>C
NM_004130.3:c.144-71A>C	NP_004121.2:n.144-71A>C
XM_017006275.1:c.-34-71A>C	XP_016861764.1:n.-34-71A>C
NM_004130.4:c.144-71A>C MANE Select	NP_004121.2:n.144-71A>C
NM_001184720.2:c.144-71A>C	NP_001171649.1:n.144-71A>C
NM_001184721.2:c.144-71A>C	NP_001171650.1:n.144-71A>C