Canonical Allele Identifier: CA381175731

Gene: PYGM

Linked Data

• gnomAD v4: 11-64753553-C-A
• MyVariant Identifiers: chr11:g.64521025C>A (hg19) ; chr11:g.64753553C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753553C>A , CM000673.2:g.64753553C>A	GRCh38
NC_000011.9:g.64521025C>A , CM000673.1:g.64521025C>A	GRCh37
NC_000011.8:g.64277601C>A	NCBI36
NG_013018.1:g.12163G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1369G>T MANE Select	ENSP00000164139.3:p.Ala457Ser
ENST00000164139.3:c.1369G>T	ENSP00000164139.3:p.Ala457Ser
ENST00000377432.7:c.1105G>T	ENSP00000366650.3:p.Ala369Ser
NM_001164716.1:c.1105G>T	NP_001158188.1:p.Ala369Ser
NM_005609.2:c.1369G>T	NP_005600.1:p.Ala457Ser
NM_005609.3:c.1369G>T	NP_005600.1:p.Ala457Ser
NM_005609.4:c.1369G>T MANE Select	NP_005600.1:p.Ala457Ser