Canonical Allele Identifier: CA2340165994
Gene: GYS1 HGNC NCBI

Linked Data

dbSNP Id: rs1568618009
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.48974468C>T , CM000681.2:g.48974468C>T GRCh38
NC_000019.9:g.49477725C>T , CM000681.1:g.49477725C>T GRCh37
NC_000019.8:g.54169537C>T NCBI36
NG_012923.1:g.23886G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000323798.8:c.1423-129G>A MANE Select ENSP00000317904.3:n.1423-129G>A
ENST00000263276.6:c.1231-129G>A ENSP00000263276.6:n.1231-129G>A
ENST00000323798.7:c.1423-129G>A ENSP00000317904.3:n.1423-129G>A
ENST00000472004.5:n.178-129G>A
ENST00000496048.1:n.330-129G>A
NM_001161587.1:c.1231-129G>A NP_001155059.1:n.1231-129G>A
NM_002103.4:c.1423-129G>A NP_002094.2:n.1423-129G>A
NR_027763.1:n.1482-129G>A
NM_002103.5:c.1423-129G>A MANE Select NP_002094.2:n.1423-129G>A
NM_001161587.2:c.1231-129G>A NP_001155059.1:n.1231-129G>A
NR_027763.2:n.1438-129G>A
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