Canonical Allele Identifier: CA223899691
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs994047389
MyVariant Identifiers: chr11:g.64520368A>G (hg19) chr11:g.64752896A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752896A>G , CM000673.2:g.64752896A>G GRCh38
NC_000011.9:g.64520368A>G , CM000673.1:g.64520368A>G GRCh37
NC_000011.8:g.64276944A>G NCBI36
NG_013018.1:g.12820T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1518+177T>C MANE Select ENSP00000164139.3:n.1518+177T>C
ENST00000164139.3:c.1518+177T>C ENSP00000164139.3:n.1518+177T>C
ENST00000377432.7:c.1254+177T>C ENSP00000366650.3:n.1254+177T>C
NM_001164716.1:c.1254+177T>C NP_001158188.1:n.1254+177T>C
NM_005609.2:c.1518+177T>C NP_005600.1:n.1518+177T>C
NM_005609.3:c.1518+177T>C NP_005600.1:n.1518+177T>C
NM_005609.4:c.1518+177T>C MANE Select NP_005600.1:n.1518+177T>C
Search 100 bp 5'
Search 100 bp 3'