Canonical Allele Identifier: CA1978920314
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753136G= , CM000673.2:g.64753136G= GRCh38
NC_000011.9:g.64520608G= , CM000673.1:g.64520608G= GRCh37
NC_000011.8:g.64277184G= NCBI36
NG_013018.1:g.12580C=

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1455C= MANE Select ENSP00000164139.3:p.Asn485=
ENST00000164139.3:c.1455C= ENSP00000164139.3:p.Asn485=
ENST00000377432.7:c.1191C= ENSP00000366650.3:p.Asn397=
NM_001164716.1:c.1191C= NP_001158188.1:p.Asn397=
NM_005609.2:c.1455C= NP_005600.1:p.Asn485=
NM_005609.3:c.1455C= NP_005600.1:p.Asn485=
NM_005609.4:c.1455C= MANE Select NP_005600.1:p.Asn485=