Canonical Allele Identifier: CA599652729

Gene: PYGM

Linked Data

• dbSNP Id: rs1211881704
• gnomAD v2: 11-64515027-G-C
• gnomAD v3: 11-64747555-G-C
• gnomAD v4: 11-64747555-G-C
• MyVariant Identifiers: chr11:g.64515027G>C (hg19) ; chr11:g.64747555G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64747555G>C , CM000673.2:g.64747555G>C	GRCh38
NC_000011.9:g.64515027G>C , CM000673.1:g.64515027G>C	GRCh37
NC_000011.8:g.64271603G>C	NCBI36
NG_007574.1:g.2902C>G , LRG_100:g.2902C>G
NG_013018.1:g.18161C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.2178-197C>G MANE Select	ENSP00000164139.3:n.2178-197C>G
ENST00000164139.3:c.2178-197C>G	ENSP00000164139.3:n.2178-197C>G
ENST00000377432.7:c.1914-197C>G	ENSP00000366650.3:n.1914-197C>G
ENST00000483742.1:n.1334C>G
NM_001164716.1:c.1914-197C>G	NP_001158188.1:n.1914-197C>G
NM_005609.2:c.2178-197C>G	NP_005600.1:n.2178-197C>G
NM_005609.3:c.2178-197C>G	NP_005600.1:n.2178-197C>G
NM_005609.4:c.2178-197C>G MANE Select	NP_005600.1:n.2178-197C>G