Canonical Allele Identifier: CA474960190
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64525811A>T (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758339A>T , CM000673.2:g.64758339A>T GRCh38
NC_000011.9:g.64525811A>T , CM000673.1:g.64525811A>T GRCh37
NC_000011.8:g.64282387A>T NCBI36
NG_013018.1:g.7377T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.435T>A MANE Select ENSP00000164139.3:p.Leu145=
ENST00000164139.3:c.435T>A ENSP00000164139.3:p.Leu145=
ENST00000377432.7:c.244-73T>A ENSP00000366650.3:n.244-73T>A
NM_001164716.1:c.244-73T>A NP_001158188.1:n.244-73T>A
NM_005609.2:c.435T>A NP_005600.1:p.Leu145=
NM_005609.3:c.435T>A NP_005600.1:p.Leu145=
NM_005609.4:c.435T>A MANE Select NP_005600.1:p.Leu145=
Search 100 bp 5'
Search 100 bp 3'