Canonical Allele Identifier: CA6080314
Gene: PYGM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 456518
ClinVar RCV Id: RCV000557171
dbSNP Id: rs370247862

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758668G>A , CM000673.2:g.64758668G>A GRCh38
NC_000011.9:g.64526140G>A , CM000673.1:g.64526140G>A GRCh37
NC_000011.8:g.64282716G>A NCBI36
NG_013018.1:g.7048C>T

Transcript Alleles

HGVS Amino-acid change
NM_001164716.1:c.244-402C>T VV NP_001158188.1:p.=
NM_005609.2:c.280C>T VV NP_005600.1:p.Arg94Trp
NM_005609.3:c.280C>T VV NP_005600.1:p.Arg94Trp
NM_005609.4:c.280C>T VV MANE Preferred NP_005600.1:p.Arg94Trp
ENST00000164139.3:c.280C>T ENSP00000164139.3:p.Arg94Trp
ENST00000377432.7:c.244-402C>T ENSP00000366650.3:p.=