Canonical Allele Identifier: CA406761675

Gene: GYS1

Linked Data

• dbSNP Id: rs1332971609
• gnomAD v2: 19-49477938-T-A
• gnomAD v3: 19-48974681-T-A
• gnomAD v4: 19-48974681-T-A
• MyVariant Identifiers: chr19:g.49477938T>A (hg19) ; chr19:g.48974681T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.48974681T>A , CM000681.2:g.48974681T>A	GRCh38
NC_000019.9:g.49477938T>A , CM000681.1:g.49477938T>A	GRCh37
NC_000019.8:g.54169750T>A	NCBI36
NG_012923.1:g.23673A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000323798.8:c.1361A>T MANE Select	ENSP00000317904.3:p.Asp454Val
ENST00000263276.6:c.1169A>T	ENSP00000263276.6:p.Asp390Val
ENST00000323798.7:c.1361A>T	ENSP00000317904.3:p.Asp454Val
ENST00000472004.5:n.116A>T
ENST00000496048.1:n.268A>T
NM_001161587.1:c.1169A>T	NP_001155059.1:p.Asp390Val
NM_002103.4:c.1361A>T	NP_002094.2:p.Asp454Val
NR_027763.1:n.1420A>T
NM_002103.5:c.1361A>T MANE Select	NP_002094.2:p.Asp454Val
NM_001161587.2:c.1169A>T	NP_001155059.1:p.Asp390Val
NR_027763.2:n.1376A>T