Canonical Allele Identifier: CA406761723

Gene: GYS1

Linked Data

• MyVariant Identifiers: chr19:g.49477958A>T (hg19) ; chr19:g.48974701A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974701A>T , CM000681.2:g.48974701A>T	GRCh38
NC_000019.9:g.49477958A>T , CM000681.1:g.49477958A>T	GRCh37
NC_000019.8:g.54169770A>T	NCBI36
NG_012923.1:g.23653T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1341T>A MANE Select	ENSP00000317904.3:p.Asn447Lys
ENST00000263276.6:c.1149T>A	ENSP00000263276.6:p.Asn383Lys
ENST00000323798.7:c.1341T>A	ENSP00000317904.3:p.Asn447Lys
ENST00000472004.5:n.96T>A
ENST00000496048.1:n.248T>A
NM_001161587.1:c.1149T>A	NP_001155059.1:p.Asn383Lys
NM_002103.4:c.1341T>A	NP_002094.2:p.Asn447Lys
NR_027763.1:n.1400T>A
NM_002103.5:c.1341T>A MANE Select	NP_002094.2:p.Asn447Lys
NM_001161587.2:c.1149T>A	NP_001155059.1:p.Asn383Lys
NR_027763.2:n.1356T>A