Canonical Allele Identifier: CA679265316

Gene: PYGM

Linked Data

• dbSNP Id: rs1211175136
• gnomAD v3: 11-64759992-A-G
• gnomAD v4: 11-64759992-A-G
• MyVariant Identifiers: chr11:g.64527464A>G (hg19) ; chr11:g.64759992A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759992A>G , CM000673.2:g.64759992A>G	GRCh38
NC_000011.9:g.64527464A>G , CM000673.1:g.64527464A>G	GRCh37
NC_000011.8:g.64284040A>G	NCBI36
NG_013018.1:g.5724T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.3:c.-94T>C	ENSP00000164139.3:n.-94T>C
NM_001164716.1:c.-94T>C	NP_001158188.1:n.-94T>C
NM_005609.2:c.-94T>C	NP_005600.1:n.-94T>C
NM_005609.3:c.-94T>C	NP_005600.1:n.-94T>C