Canonical Allele Identifier: CA599803676

Gene: PYGM

Linked Data

• dbSNP Id: rs1458853485
• gnomAD v2: 11-64527489-C-G
• gnomAD v3: 11-64760017-C-G
• gnomAD v4: 11-64760017-C-G
• MyVariant Identifiers: chr11:g.64527489C>G (hg19) ; chr11:g.64760017C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64760017C>G , CM000673.2:g.64760017C>G	GRCh38
NC_000011.9:g.64527489C>G , CM000673.1:g.64527489C>G	GRCh37
NC_000011.8:g.64284065C>G	NCBI36
NG_013018.1:g.5699G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.3:c.-119G>C	ENSP00000164139.3:n.-119G>C
NM_001164716.1:c.-119G>C	NP_001158188.1:n.-119G>C
NM_005609.2:c.-119G>C	NP_005600.1:n.-119G>C
NM_005609.3:c.-119G>C	NP_005600.1:n.-119G>C