Canonical Allele Identifier: CA474960187
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2135840169
MyVariant Identifiers: chr11:g.64525811A>C (hg19)
JSON-LD

Genomic Alleles

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

Transcript Alleles

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