Canonical Allele Identifier: CA913606765

Gene: PYGM

Linked Data

• dbSNP Id: rs1565531699
• gnomAD v2: 11-64514957-C-A
• gnomAD v3: 11-64747485-C-A
• gnomAD v4: 11-64747485-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747485C>A , CM000673.2:g.64747485C>A	GRCh38
NC_000011.9:g.64514957C>A , CM000673.1:g.64514957C>A	GRCh37
NC_000011.8:g.64271533C>A	NCBI36
NG_007574.1:g.2972G>T , LRG_100:g.2972G>T
NG_013018.1:g.18231G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-127G>T MANE Select	ENSP00000164139.3:n.2178-127G>T
ENST00000164139.3:c.2178-127G>T	ENSP00000164139.3:n.2178-127G>T
ENST00000377432.7:c.1914-127G>T	ENSP00000366650.3:n.1914-127G>T
ENST00000483742.1:n.1404G>T
NM_001164716.1:c.1914-127G>T	NP_001158188.1:n.1914-127G>T
NM_005609.2:c.2178-127G>T	NP_005600.1:n.2178-127G>T
NM_005609.3:c.2178-127G>T	NP_005600.1:n.2178-127G>T
NM_005609.4:c.2178-127G>T MANE Select	NP_005600.1:n.2178-127G>T