Canonical Allele Identifier: CA2340165997

Gene: GYS1

Linked Data

• dbSNP Id: rs2038613877

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974470A>C , CM000681.2:g.48974470A>C	GRCh38
NC_000019.9:g.49477727A>C , CM000681.1:g.49477727A>C	GRCh37
NC_000019.8:g.54169539A>C	NCBI36
NG_012923.1:g.23884T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1423-131T>G MANE Select	ENSP00000317904.3:n.1423-131T>G
ENST00000263276.6:c.1231-131T>G	ENSP00000263276.6:n.1231-131T>G
ENST00000323798.7:c.1423-131T>G	ENSP00000317904.3:n.1423-131T>G
ENST00000472004.5:n.178-131T>G
ENST00000496048.1:n.330-131T>G
NM_001161587.1:c.1231-131T>G	NP_001155059.1:n.1231-131T>G
NM_002103.4:c.1423-131T>G	NP_002094.2:n.1423-131T>G
NR_027763.1:n.1482-131T>G
NM_002103.5:c.1423-131T>G MANE Select	NP_002094.2:n.1423-131T>G
NM_001161587.2:c.1231-131T>G	NP_001155059.1:n.1231-131T>G
NR_027763.2:n.1438-131T>G