Canonical Allele Identifier: CA16041505
Gene: PYGM HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371276
ClinVar RCV Id: RCV000412392
dbSNP Id: rs1057517145

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758696G>C , CM000673.2:g.64758696G>C GRCh38
NC_000011.9:g.64526168G>C , CM000673.1:g.64526168G>C GRCh37
NC_000011.8:g.64282744G>C NCBI36
NG_013018.1:g.7020C>G

Transcript Alleles

HGVS Amino-acid change
NM_001164716.1:c.244-430C>G VV NP_001158188.1:p.=
NM_005609.2:c.252C>G VV NP_005600.1:p.Tyr84Ter
NM_005609.3:c.252C>G VV
NM_005609.4:c.252C>G VV MANE Preferred
ENST00000164139.3:c.252C>G ENSP00000164139.3:p.Tyr84Ter
ENST00000377432.7:c.244-430C>G ENSP00000366650.3:p.=