Canonical Allele Identifier: CA381175123
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64520603A>G (hg19) chr11:g.64753131A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64753131A>G , CM000673.2:g.64753131A>G GRCh38
NC_000011.9:g.64520603A>G , CM000673.1:g.64520603A>G GRCh37
NC_000011.8:g.64277179A>G NCBI36
NG_013018.1:g.12585T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1460T>C MANE Select ENSP00000164139.3:p.Ile487Thr
ENST00000164139.3:c.1460T>C ENSP00000164139.3:p.Ile487Thr
ENST00000377432.7:c.1196T>C ENSP00000366650.3:p.Ile399Thr
NM_001164716.1:c.1196T>C NP_001158188.1:p.Ile399Thr
NM_005609.2:c.1460T>C NP_005600.1:p.Ile487Thr
NM_005609.3:c.1460T>C NP_005600.1:p.Ile487Thr
NM_005609.4:c.1460T>C MANE Select NP_005600.1:p.Ile487Thr
Search 100 bp 5'
Search 100 bp 3'