Canonical Allele Identifier: CA938842114

Gene: PYGM

Linked Data

• dbSNP Id: rs2058419842
• gnomAD v3: 11-64759649-G-A
• gnomAD v4: 11-64759649-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759649G>A , CM000673.2:g.64759649G>A	GRCh38
NC_000011.9:g.64527121G>A , CM000673.1:g.64527121G>A	GRCh37
NC_000011.8:g.64283697G>A	NCBI36
NG_013018.1:g.6067C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000164139.4:c.243+7C>T MANE Select	ENSP00000164139.3:n.243+7C>T
ENST00000164139.3:c.243+7C>T	ENSP00000164139.3:n.243+7C>T
ENST00000377432.7:c.243+7C>T	ENSP00000366650.3:n.243+7C>T
NM_001164716.1:c.243+7C>T	NP_001158188.1:n.243+7C>T
NM_005609.2:c.243+7C>T	NP_005600.1:n.243+7C>T
NM_005609.3:c.243+7C>T	NP_005600.1:n.243+7C>T
NM_005609.4:c.243+7C>T MANE Select	NP_005600.1:n.243+7C>T