Canonical Allele Identifier: CA16041496
Gene: PYGM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 370572
ClinVar RCV Id: RCV000410171
dbSNP Id: rs1057516598

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750584C>T , CM000673.2:g.64750584C>T GRCh38
NC_000011.9:g.64518056C>T , CM000673.1:g.64518056C>T GRCh37
NC_000011.8:g.64274632C>T NCBI36
NG_013018.1:g.15132G>A

Transcript Alleles

HGVS Amino-acid change
NM_001164716.1:c.1706-1G>A VV NP_001158188.1:p.=
NM_005609.2:c.1970-1G>A VV NP_005600.1:p.=
NM_005609.3:c.1970-1G>A VV
ENST00000164139.3:c.1970-1G>A ENSP00000164139.3:p.=
ENST00000377432.7:c.1706-1G>A ENSP00000366650.3:p.=