Canonical Allele Identifier: CA381168002
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64517982C>G (hg19) chr11:g.64750510C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750510C>G , CM000673.2:g.64750510C>G GRCh38
NC_000011.9:g.64517982C>G , CM000673.1:g.64517982C>G GRCh37
NC_000011.8:g.64274558C>G NCBI36
NG_013018.1:g.15206G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2043G>C MANE Select ENSP00000164139.3:p.Lys681Asn
ENST00000164139.3:c.2043G>C ENSP00000164139.3:p.Lys681Asn
ENST00000377432.7:c.1779G>C ENSP00000366650.3:p.Lys593Asn
NM_001164716.1:c.1779G>C NP_001158188.1:p.Lys593Asn
NM_005609.2:c.2043G>C NP_005600.1:p.Lys681Asn
NM_005609.3:c.2043G>C NP_005600.1:p.Lys681Asn
NM_005609.4:c.2043G>C MANE Select NP_005600.1:p.Lys681Asn
Search 100 bp 5'
Search 100 bp 3'