Canonical Allele Identifier: CA2614192080
Gene: PYGM HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759905A>G , CM000673.2:g.64759905A>G GRCh38
NC_000011.9:g.64527377A>G , CM000673.1:g.64527377A>G GRCh37
NC_000011.8:g.64283953A>G NCBI36
NG_013018.1:g.5811T>C

Transcript Alleles

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