Canonical Allele Identifier: CA381169134
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64751409-C-T
MyVariant Identifiers: chr11:g.64518881C>T (hg19) chr11:g.64751409C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751409C>T , CM000673.2:g.64751409C>T GRCh38
NC_000011.9:g.64518881C>T , CM000673.1:g.64518881C>T GRCh37
NC_000011.8:g.64275457C>T NCBI36
NG_013018.1:g.14307G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.1885G>A MANE Select ENSP00000164139.3:p.Asp629Asn
ENST00000164139.3:c.1885G>A ENSP00000164139.3:p.Asp629Asn
ENST00000377432.7:c.1621G>A ENSP00000366650.3:p.Asp541Asn
ENST00000462303.1:n.209G>A
NM_001164716.1:c.1621G>A NP_001158188.1:p.Asp541Asn
NM_005609.2:c.1885G>A NP_005600.1:p.Asp629Asn
NM_005609.3:c.1885G>A NP_005600.1:p.Asp629Asn
NM_005609.4:c.1885G>A MANE Select NP_005600.1:p.Asp629Asn
Search 100 bp 5'
Search 100 bp 3'