Canonical Allele Identifier: CA381169131
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1451559399
MyVariant Identifiers: chr11:g.64518880T>G (hg19) chr11:g.64751408T>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751408T>G , CM000673.2:g.64751408T>G GRCh38
NC_000011.9:g.64518880T>G , CM000673.1:g.64518880T>G GRCh37
NC_000011.8:g.64275456T>G NCBI36
NG_013018.1:g.14308A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1886A>C MANE Select ENSP00000164139.3:p.Asp629Ala
ENST00000164139.3:c.1886A>C ENSP00000164139.3:p.Asp629Ala
ENST00000377432.7:c.1622A>C ENSP00000366650.3:p.Asp541Ala
ENST00000462303.1:n.210A>C
NM_001164716.1:c.1622A>C NP_001158188.1:p.Asp541Ala
NM_005609.2:c.1886A>C NP_005600.1:p.Asp629Ala
NM_005609.3:c.1886A>C NP_005600.1:p.Asp629Ala
NM_005609.4:c.1886A>C MANE Select NP_005600.1:p.Asp629Ala
Search 100 bp 5'
Search 100 bp 3'