Canonical Allele Identifier: CA381110856

Gene: PYGM

Linked Data

• ClinVar Variation Id: 848237
• ClinVar RCV Id: RCV001051949
• dbSNP Id: rs1219299972
• gnomAD v2: 11-64526073-A-T
• gnomAD v3: 11-64758601-A-T
• gnomAD v4: 11-64758601-A-T
• MyVariant Identifiers: chr11:g.64526073A>T (hg19) ; chr11:g.64758601A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64758601A>T , CM000673.2:g.64758601A>T	GRCh38
NC_000011.9:g.64526073A>T , CM000673.1:g.64526073A>T	GRCh37
NC_000011.8:g.64282649A>T	NCBI36
NG_013018.1:g.7115T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.345+2T>A MANE Select	ENSP00000164139.3:n.345+2T>A
ENST00000164139.3:c.345+2T>A	ENSP00000164139.3:n.345+2T>A
ENST00000377432.7:c.244-335T>A	ENSP00000366650.3:n.244-335T>A
NM_001164716.1:c.244-335T>A	NP_001158188.1:n.244-335T>A
NM_005609.2:c.345+2T>A	NP_005600.1:n.345+2T>A
NM_005609.3:c.345+2T>A	NP_005600.1:n.345+2T>A
NM_005609.4:c.345+2T>A MANE Select	NP_005600.1:n.345+2T>A