Canonical Allele Identifier: CA508081614

Gene: GYS1

Linked Data

• dbSNP Id: rs1600134995
• MyVariant Identifiers: chr19:g.49477973A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974716A>G , CM000681.2:g.48974716A>G	GRCh38
NC_000019.9:g.49477973A>G , CM000681.1:g.49477973A>G	GRCh37
NC_000019.8:g.54169785A>G	NCBI36
NG_012923.1:g.23638T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1326T>C MANE Select	ENSP00000317904.3:p.Pro442=
ENST00000263276.6:c.1134T>C	ENSP00000263276.6:p.Pro378=
ENST00000323798.7:c.1326T>C	ENSP00000317904.3:p.Pro442=
ENST00000472004.5:n.81T>C
ENST00000496048.1:n.233T>C
NM_001161587.1:c.1134T>C	NP_001155059.1:p.Pro378=
NM_002103.4:c.1326T>C	NP_002094.2:p.Pro442=
NR_027763.1:n.1385T>C
NM_002103.5:c.1326T>C MANE Select	NP_002094.2:p.Pro442=
NM_001161587.2:c.1134T>C	NP_001155059.1:p.Pro378=
NR_027763.2:n.1341T>C