Canonical Allele Identifier: CA508081603
Gene: GYS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49477952C>G (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974695C>G , CM000681.2:g.48974695C>G GRCh38
NC_000019.9:g.49477952C>G , CM000681.1:g.49477952C>G GRCh37
NC_000019.8:g.54169764C>G NCBI36
NG_012923.1:g.23659G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1347G>C MANE Select ENSP00000317904.3:p.Leu449=
ENST00000263276.6:c.1155G>C ENSP00000263276.6:p.Leu385=
ENST00000323798.7:c.1347G>C ENSP00000317904.3:p.Leu449=
ENST00000472004.5:n.102G>C
ENST00000496048.1:n.254G>C
NM_001161587.1:c.1155G>C NP_001155059.1:p.Leu385=
NM_002103.4:c.1347G>C NP_002094.2:p.Leu449=
NR_027763.1:n.1406G>C
NM_002103.5:c.1347G>C MANE Select NP_002094.2:p.Leu449=
NM_001161587.2:c.1155G>C NP_001155059.1:p.Leu385=
NR_027763.2:n.1362G>C
Search 100 bp 5'
Search 100 bp 3'