Canonical Allele Identifier: CA2814673952

Gene: GYS1

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974466T>G , CM000681.2:g.48974466T>G	GRCh38
NC_000019.9:g.49477723T>G , CM000681.1:g.49477723T>G	GRCh37
NC_000019.8:g.54169535T>G	NCBI36
NG_012923.1:g.23888A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1423-127A>C MANE Select	ENSP00000317904.3:n.1423-127A>C
ENST00000263276.6:c.1231-127A>C	ENSP00000263276.6:n.1231-127A>C
ENST00000323798.7:c.1423-127A>C	ENSP00000317904.3:n.1423-127A>C
ENST00000472004.5:n.178-127A>C
ENST00000496048.1:n.330-127A>C
NM_001161587.1:c.1231-127A>C	NP_001155059.1:n.1231-127A>C
NM_002103.4:c.1423-127A>C	NP_002094.2:n.1423-127A>C
NR_027763.1:n.1482-127A>C
NM_002103.5:c.1423-127A>C MANE Select	NP_002094.2:n.1423-127A>C
NM_001161587.2:c.1231-127A>C	NP_001155059.1:n.1231-127A>C
NR_027763.2:n.1438-127A>C