Canonical Allele Identifier: CA381175726

Gene: PYGM

Linked Data

• gnomAD v4: 11-64753550-G-T
• MyVariant Identifiers: chr11:g.64521022G>T (hg19) ; chr11:g.64753550G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.64753550G>T , CM000673.2:g.64753550G>T	GRCh38
NC_000011.9:g.64521022G>T , CM000673.1:g.64521022G>T	GRCh37
NC_000011.8:g.64277598G>T	NCBI36
NG_013018.1:g.12166C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000164139.4:c.1372C>A MANE Select	ENSP00000164139.3:p.Arg458Ser
ENST00000164139.3:c.1372C>A	ENSP00000164139.3:p.Arg458Ser
ENST00000377432.7:c.1108C>A	ENSP00000366650.3:p.Arg370Ser
NM_001164716.1:c.1108C>A	NP_001158188.1:p.Arg370Ser
NM_005609.2:c.1372C>A	NP_005600.1:p.Arg458Ser
NM_005609.3:c.1372C>A	NP_005600.1:p.Arg458Ser
NM_005609.4:c.1372C>A MANE Select	NP_005600.1:p.Arg458Ser