Canonical Allele Identifier: CA381112915
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64527278G>T (hg19) chr11:g.64759806G>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759806G>T , CM000673.2:g.64759806G>T GRCh38
NC_000011.9:g.64527278G>T , CM000673.1:g.64527278G>T GRCh37
NC_000011.8:g.64283854G>T NCBI36
NG_013018.1:g.5910C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.93C>A MANE Select ENSP00000164139.3:p.Asn31Lys
ENST00000164139.3:c.93C>A ENSP00000164139.3:p.Asn31Lys
ENST00000377432.7:c.93C>A ENSP00000366650.3:p.Asn31Lys
NM_001164716.1:c.93C>A NP_001158188.1:p.Asn31Lys
NM_005609.2:c.93C>A NP_005600.1:p.Asn31Lys
NM_005609.3:c.93C>A NP_005600.1:p.Asn31Lys
NM_005609.4:c.93C>A MANE Select NP_005600.1:p.Asn31Lys
Search 100 bp 5'
Search 100 bp 3'