Canonical Allele Identifier: CA679268794

Gene: PYGM

Linked Data

• dbSNP Id: rs1443717193
• gnomAD v3: 11-64747051-A-C
• gnomAD v4: 11-64747051-A-C
• MyVariant Identifiers: chr11:g.64514523A>C (hg19) ; chr11:g.64747051A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747051A>C , CM000673.2:g.64747051A>C	GRCh38
NC_000011.9:g.64514523A>C , CM000673.1:g.64514523A>C	GRCh37
NC_000011.8:g.64271099A>C	NCBI36
NG_007574.1:g.3406T>G , LRG_100:g.3406T>G
NG_013018.1:g.18665T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2313-64T>G MANE Select	ENSP00000164139.3:n.2313-64T>G
ENST00000164139.3:c.2313-64T>G	ENSP00000164139.3:n.2313-64T>G
ENST00000377432.7:c.2049-64T>G	ENSP00000366650.3:n.2049-64T>G
ENST00000483742.1:n.1666-64T>G
NM_001164716.1:c.2049-64T>G	NP_001158188.1:n.2049-64T>G
NM_005609.2:c.2313-64T>G	NP_005600.1:n.2313-64T>G
NM_005609.3:c.2313-64T>G	NP_005600.1:n.2313-64T>G
NM_005609.4:c.2313-64T>G MANE Select	NP_005600.1:n.2313-64T>G