Canonical Allele Identifier: CA475161409
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64527320A>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759848A>G , CM000673.2:g.64759848A>G GRCh38
NC_000011.9:g.64527320A>G , CM000673.1:g.64527320A>G GRCh37
NC_000011.8:g.64283896A>G NCBI36
NG_013018.1:g.5868T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.51T>C MANE Select ENSP00000164139.3:p.Arg17=
ENST00000164139.3:c.51T>C ENSP00000164139.3:p.Arg17=
ENST00000377432.7:c.51T>C ENSP00000366650.3:p.Arg17=
NM_001164716.1:c.51T>C NP_001158188.1:p.Arg17=
NM_005609.2:c.51T>C NP_005600.1:p.Arg17=
NM_005609.3:c.51T>C NP_005600.1:p.Arg17=
NM_005609.4:c.51T>C MANE Select NP_005600.1:p.Arg17=