Canonical Allele Identifier: CA223895030

Gene: PYGM

Linked Data

• dbSNP Id: rs71581781
• gnomAD v2: 11-64514885-C-G
• gnomAD v3: 11-64747413-C-G
• gnomAD v4: 11-64747413-C-G
• MyVariant Identifiers: chr11:g.64514885C>G (hg19) ; chr11:g.64747413C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747413C>G , CM000673.2:g.64747413C>G	GRCh38
NC_000011.9:g.64514885C>G , CM000673.1:g.64514885C>G	GRCh37
NC_000011.8:g.64271461C>G	NCBI36
NG_007574.1:g.3044G>C , LRG_100:g.3044G>C
NG_013018.1:g.18303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-55G>C MANE Select	ENSP00000164139.3:n.2178-55G>C
ENST00000164139.3:c.2178-55G>C	ENSP00000164139.3:n.2178-55G>C
ENST00000377432.7:c.1914-55G>C	ENSP00000366650.3:n.1914-55G>C
ENST00000483742.1:n.1476G>C
NM_001164716.1:c.1914-55G>C	NP_001158188.1:n.1914-55G>C
NM_005609.2:c.2178-55G>C	NP_005600.1:n.2178-55G>C
NM_005609.3:c.2178-55G>C	NP_005600.1:n.2178-55G>C
NM_005609.4:c.2178-55G>C MANE Select	NP_005600.1:n.2178-55G>C