Canonical Allele Identifier: CA645591986
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751632dup , CM000673.2:g.64751632dup GRCh38
NC_000011.9:g.64519104dup , CM000673.1:g.64519104dup GRCh37
NC_000011.8:g.64275680dup NCBI36
NG_013018.1:g.14089dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1797dup MANE Select ENSP00000164139.3:p.Val600CysfsTer?
ENST00000164139.3:c.1797dup ENSP00000164139.3:p.Val600CysfsTer?
ENST00000377432.7:c.1533dup ENSP00000366650.3:p.Val512CysfsTer?
ENST00000462303.1:n.121dup
NM_001164716.1:c.1533dup NP_001158188.1:p.Val512CysfsTer?
NM_005609.2:c.1797dup NP_005600.1:p.Val600CysfsTer?
NM_005609.3:c.1797dup NP_005600.1:p.Val600CysfsTer?
NM_005609.4:c.1797dup MANE Select NP_005600.1:p.Val600CysfsTer?