Canonical Allele Identifier: CA2614191466
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64759506-A-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759506A>G , CM000673.2:g.64759506A>G GRCh38
NC_000011.9:g.64526978A>G , CM000673.1:g.64526978A>G GRCh37
NC_000011.8:g.64283554A>G NCBI36
NG_013018.1:g.6210T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.243+150T>C MANE Select ENSP00000164139.3:n.243+150T>C
ENST00000164139.3:c.243+150T>C ENSP00000164139.3:n.243+150T>C
ENST00000377432.7:c.243+150T>C ENSP00000366650.3:n.243+150T>C
NM_001164716.1:c.243+150T>C NP_001158188.1:n.243+150T>C
NM_005609.2:c.243+150T>C NP_005600.1:n.243+150T>C
NM_005609.3:c.243+150T>C NP_005600.1:n.243+150T>C
NM_005609.4:c.243+150T>C MANE Select NP_005600.1:n.243+150T>C
Search 100 bp 5'
Search 100 bp 3'