Canonical Allele Identifier: CA2614192132

Gene: PYGM

Linked Data

• gnomAD v4: 11-64759968-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759968A>C , CM000673.2:g.64759968A>C	GRCh38
NC_000011.9:g.64527440A>C , CM000673.1:g.64527440A>C	GRCh37
NC_000011.8:g.64284016A>C	NCBI36
NG_013018.1:g.5748T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.-70T>G MANE Select	ENSP00000164139.3:n.-70T>G
ENST00000164139.3:c.-70T>G	ENSP00000164139.3:n.-70T>G
ENST00000377432.7:c.-70T>G	ENSP00000366650.3:n.-70T>G
NM_001164716.1:c.-70T>G	NP_001158188.1:n.-70T>G
NM_005609.2:c.-70T>G	NP_005600.1:n.-70T>G
NM_005609.3:c.-70T>G	NP_005600.1:n.-70T>G
NM_005609.4:c.-70T>G MANE Select	NP_005600.1:n.-70T>G