Canonical Allele Identifier: CA938842309

Gene: PYGM

Linked Data

• dbSNP Id: rs2058424325
• gnomAD v3: 11-64760000-TA-T
• gnomAD v4: 11-64760000-TA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64760003del , CM000673.2:g.64760003del	GRCh38
NC_000011.9:g.64527475del , CM000673.1:g.64527475del	GRCh37
NC_000011.8:g.64284051del	NCBI36
NG_013018.1:g.5715del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.3:c.-103del	ENSP00000164139.3:n.-103del
NM_001164716.1:c.-103del	NP_001158188.1:n.-103del
NM_005609.2:c.-103del	NP_005600.1:n.-103del
NM_005609.3:c.-103del	NP_005600.1:n.-103del