Canonical Allele Identifier: CA16041506
Gene: PYGM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371552
ClinVar RCV Id: RCV000409722
dbSNP Id: rs1057517361

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759682G>A , CM000673.2:g.64759682G>A GRCh38
NC_000011.9:g.64527154G>A , CM000673.1:g.64527154G>A GRCh37
NC_000011.8:g.64283730G>A NCBI36
NG_013018.1:g.6034C>T

Transcript Alleles

HGVS Amino-acid change
NM_001164716.1:c.217C>T VV NP_001158188.1:p.Gln73Ter
NM_005609.2:c.217C>T VV NP_005600.1:p.Gln73Ter
NM_005609.3:c.217C>T VV
ENST00000164139.3:c.217C>T ENSP00000164139.3:p.Gln73Ter
ENST00000377432.7:c.217C>T ENSP00000366650.3:p.Gln73Ter