Canonical Allele Identifier: CA6079586

Gene: PYGM

Linked Data

• dbSNP Id: rs752919943
• ExAC: 11:64514739 C / A
• gnomAD v2: 11-64514739-C-A
• gnomAD v4: 11-64747267-C-A
• MyVariant Identifiers: chr11:g.64514739C>A (hg19) ; chr11:g.64747267C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747267C>A , CM000673.2:g.64747267C>A	GRCh38
NC_000011.9:g.64514739C>A , CM000673.1:g.64514739C>A	GRCh37
NC_000011.8:g.64271315C>A	NCBI36
NG_007574.1:g.3190G>T , LRG_100:g.3190G>T
NG_013018.1:g.18449G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2269G>T MANE Select	ENSP00000164139.3:p.Asp757Tyr
ENST00000164139.3:c.2269G>T	ENSP00000164139.3:p.Asp757Tyr
ENST00000377432.7:c.2005G>T	ENSP00000366650.3:p.Asp669Tyr
ENST00000483742.1:n.1622G>T
NM_001164716.1:c.2005G>T	NP_001158188.1:p.Asp669Tyr
NM_005609.2:c.2269G>T	NP_005600.1:p.Asp757Tyr
NM_005609.3:c.2269G>T	NP_005600.1:p.Asp757Tyr
NM_005609.4:c.2269G>T MANE Select	NP_005600.1:p.Asp757Tyr