Canonical Allele Identifier: CA406761768
Gene: GYS1 HGNC NCBI

Linked Data

gnomAD v4: 19-48974723-A-G
MyVariant Identifiers: chr19:g.49477980A>G (hg19) chr19:g.48974723A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974723A>G , CM000681.2:g.48974723A>G GRCh38
NC_000019.9:g.49477980A>G , CM000681.1:g.49477980A>G GRCh37
NC_000019.8:g.54169792A>G NCBI36
NG_012923.1:g.23631T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1319T>C MANE Select ENSP00000317904.3:p.Phe440Ser
ENST00000263276.6:c.1127T>C ENSP00000263276.6:p.Phe376Ser
ENST00000323798.7:c.1319T>C ENSP00000317904.3:p.Phe440Ser
ENST00000472004.5:n.74T>C
ENST00000496048.1:n.226T>C
NM_001161587.1:c.1127T>C NP_001155059.1:p.Phe376Ser
NM_002103.4:c.1319T>C NP_002094.2:p.Phe440Ser
NR_027763.1:n.1378T>C
NM_002103.5:c.1319T>C MANE Select NP_002094.2:p.Phe440Ser
NM_001161587.2:c.1127T>C NP_001155059.1:p.Phe376Ser
NR_027763.2:n.1334T>C
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