Canonical Allele Identifier: CA1978919427
Gene: PYGM HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747339A= , CM000673.2:g.64747339A= GRCh38
NC_000011.9:g.64514811A= , CM000673.1:g.64514811A= GRCh37
NC_000011.8:g.64271387A= NCBI36
NG_007574.1:g.3118T= , LRG_100:g.3118T=
NG_013018.1:g.18377T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2197T= MANE Select ENSP00000164139.3:p.Tyr733=
ENST00000164139.3:c.2197T= ENSP00000164139.3:p.Tyr733=
ENST00000377432.7:c.1933T= ENSP00000366650.3:p.Tyr645=
ENST00000483742.1:n.1550T=
NM_001164716.1:c.1933T= NP_001158188.1:p.Tyr645=
NM_005609.2:c.2197T= NP_005600.1:p.Tyr733=
NM_005609.3:c.2197T= NP_005600.1:p.Tyr733=
NM_005609.4:c.2197T= MANE Select NP_005600.1:p.Tyr733=