Canonical Allele Identifier: CA1978920691
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753337G= , CM000673.2:g.64753337G= GRCh38
NC_000011.9:g.64520809G= , CM000673.1:g.64520809G= GRCh37
NC_000011.8:g.64277385G= NCBI36
NG_013018.1:g.12379C=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1404-150C= MANE Select ENSP00000164139.3:n.1404-150C=
ENST00000164139.3:c.1404-150C= ENSP00000164139.3:n.1404-150C=
ENST00000377432.7:c.1140-150C= ENSP00000366650.3:n.1140-150C=
NM_001164716.1:c.1140-150C= NP_001158188.1:n.1140-150C=
NM_005609.2:c.1404-150C= NP_005600.1:n.1404-150C=
NM_005609.3:c.1404-150C= NP_005600.1:n.1404-150C=
NM_005609.4:c.1404-150C= MANE Select NP_005600.1:n.1404-150C=