Canonical Allele Identifier: CA381111643

Gene: PYGM

Linked Data

• gnomAD v4: 11-64758706-T-C
• MyVariant Identifiers: chr11:g.64526178T>C (hg19) ; chr11:g.64758706T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64758706T>C , CM000673.2:g.64758706T>C	GRCh38
NC_000011.9:g.64526178T>C , CM000673.1:g.64526178T>C	GRCh37
NC_000011.8:g.64282754T>C	NCBI36
NG_013018.1:g.7010A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.244-2A>G MANE Select	ENSP00000164139.3:n.244-2A>G
ENST00000164139.3:c.244-2A>G	ENSP00000164139.3:n.244-2A>G
ENST00000377432.7:c.244-440A>G	ENSP00000366650.3:n.244-440A>G
NM_001164716.1:c.244-440A>G	NP_001158188.1:n.244-440A>G
NM_005609.2:c.244-2A>G	NP_005600.1:n.244-2A>G
NM_005609.3:c.244-2A>G	NP_005600.1:n.244-2A>G
NM_005609.4:c.244-2A>G MANE Select	NP_005600.1:n.244-2A>G