Canonical Allele Identifier: CA406761548
Gene: GYS1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr19:g.49477877C>G (hg19) chr19:g.48974620C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974620C>G , CM000681.2:g.48974620C>G GRCh38
NC_000019.9:g.49477877C>G , CM000681.1:g.49477877C>G GRCh37
NC_000019.8:g.54169689C>G NCBI36
NG_012923.1:g.23734G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1422G>C MANE Select ENSP00000317904.3:p.Lys474Asn
ENST00000263276.6:c.1230G>C ENSP00000263276.6:p.Lys410Asn
ENST00000323798.7:c.1422G>C ENSP00000317904.3:p.Lys474Asn
ENST00000472004.5:n.177G>C
ENST00000496048.1:n.329G>C
NM_001161587.1:c.1230G>C NP_001155059.1:p.Lys410Asn
NM_002103.4:c.1422G>C NP_002094.2:p.Lys474Asn
NR_027763.1:n.1481G>C
NM_002103.5:c.1422G>C MANE Select NP_002094.2:p.Lys474Asn
NM_001161587.2:c.1230G>C NP_001155059.1:p.Lys410Asn
NR_027763.2:n.1437G>C
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