Canonical Allele Identifier: CA474958857

Gene: PYGM

Linked Data

• ClinVar Variation Id: 2822780
• ClinVar RCV Id: RCV003604347
• gnomAD v4: 11-64751347-G-A
• MyVariant Identifiers: chr11:g.64518819G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64751347G>A , CM000673.2:g.64751347G>A	GRCh38
NC_000011.9:g.64518819G>A , CM000673.1:g.64518819G>A	GRCh37
NC_000011.8:g.64275395G>A	NCBI36
NG_013018.1:g.14369C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1947C>T MANE Select	ENSP00000164139.3:p.Tyr649=
ENST00000164139.3:c.1947C>T	ENSP00000164139.3:p.Tyr649=
ENST00000377432.7:c.1683C>T	ENSP00000366650.3:p.Tyr561=
ENST00000462303.1:n.271C>T
NM_001164716.1:c.1683C>T	NP_001158188.1:p.Tyr561=
NM_005609.2:c.1947C>T	NP_005600.1:p.Tyr649=
NM_005609.3:c.1947C>T	NP_005600.1:p.Tyr649=
NM_005609.4:c.1947C>T MANE Select	NP_005600.1:p.Tyr649=