Canonical Allele Identifier: CA938842301

Gene: PYGM

Linked Data

• dbSNP Id: rs2058423845
• gnomAD v3: 11-64759939-G-A
• gnomAD v4: 11-64759939-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64759939G>A , CM000673.2:g.64759939G>A	GRCh38
NC_000011.9:g.64527411G>A , CM000673.1:g.64527411G>A	GRCh37
NC_000011.8:g.64283987G>A	NCBI36
NG_013018.1:g.5777C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.-41C>T MANE Select	ENSP00000164139.3:n.-41C>T
ENST00000164139.3:c.-41C>T	ENSP00000164139.3:n.-41C>T
ENST00000377432.7:c.-41C>T	ENSP00000366650.3:n.-41C>T
NM_001164716.1:c.-41C>T	NP_001158188.1:n.-41C>T
NM_005609.2:c.-41C>T	NP_005600.1:n.-41C>T
NM_005609.3:c.-41C>T	NP_005600.1:n.-41C>T
NM_005609.4:c.-41C>T MANE Select	NP_005600.1:n.-41C>T