Canonical Allele Identifier: CA406761662

Gene: GYS1

Linked Data

• MyVariant Identifiers: chr19:g.49477932A>G (hg19) ; chr19:g.48974675A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974675A>G , CM000681.2:g.48974675A>G	GRCh38
NC_000019.9:g.49477932A>G , CM000681.1:g.49477932A>G	GRCh37
NC_000019.8:g.54169744A>G	NCBI36
NG_012923.1:g.23679T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1367T>C MANE Select	ENSP00000317904.3:p.Ile456Thr
ENST00000263276.6:c.1175T>C	ENSP00000263276.6:p.Ile392Thr
ENST00000323798.7:c.1367T>C	ENSP00000317904.3:p.Ile456Thr
ENST00000472004.5:n.122T>C
ENST00000496048.1:n.274T>C
NM_001161587.1:c.1175T>C	NP_001155059.1:p.Ile392Thr
NM_002103.4:c.1367T>C	NP_002094.2:p.Ile456Thr
NR_027763.1:n.1426T>C
NM_002103.5:c.1367T>C MANE Select	NP_002094.2:p.Ile456Thr
NM_001161587.2:c.1175T>C	NP_001155059.1:p.Ile392Thr
NR_027763.2:n.1382T>C