Canonical Allele Identifier: CA406761738
Gene: GYS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49477965G>C (hg19) chr19:g.48974708G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974708G>C , CM000681.2:g.48974708G>C GRCh38
NC_000019.9:g.49477965G>C , CM000681.1:g.49477965G>C GRCh37
NC_000019.8:g.54169777G>C NCBI36
NG_012923.1:g.23646C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1334C>G MANE Select ENSP00000317904.3:p.Thr445Ser
ENST00000263276.6:c.1142C>G ENSP00000263276.6:p.Thr381Ser
ENST00000323798.7:c.1334C>G ENSP00000317904.3:p.Thr445Ser
ENST00000472004.5:n.89C>G
ENST00000496048.1:n.241C>G
NM_001161587.1:c.1142C>G NP_001155059.1:p.Thr381Ser
NM_002103.4:c.1334C>G NP_002094.2:p.Thr445Ser
NR_027763.1:n.1393C>G
NM_002103.5:c.1334C>G MANE Select NP_002094.2:p.Thr445Ser
NM_001161587.2:c.1142C>G NP_001155059.1:p.Thr381Ser
NR_027763.2:n.1349C>G
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