Canonical Allele Identifier: CA381113114
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64527313C>A (hg19) chr11:g.64759841C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759841C>A , CM000673.2:g.64759841C>A GRCh38
NC_000011.9:g.64527313C>A , CM000673.1:g.64527313C>A GRCh37
NC_000011.8:g.64283889C>A NCBI36
NG_013018.1:g.5875G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.58G>T MANE Select ENSP00000164139.3:p.Ala20Ser
ENST00000164139.3:c.58G>T ENSP00000164139.3:p.Ala20Ser
ENST00000377432.7:c.58G>T ENSP00000366650.3:p.Ala20Ser
NM_001164716.1:c.58G>T NP_001158188.1:p.Ala20Ser
NM_005609.2:c.58G>T NP_005600.1:p.Ala20Ser
NM_005609.3:c.58G>T NP_005600.1:p.Ala20Ser
NM_005609.4:c.58G>T MANE Select NP_005600.1:p.Ala20Ser
Search 100 bp 5'
Search 100 bp 3'