Canonical Allele Identifier: CA223889195
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1025481959
gnomAD v2: 11-64527136-C-A
gnomAD v4: 11-64759664-C-A
MyVariant Identifiers: chr11:g.64527136C>A (hg19) chr11:g.64759664C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759664C>A , CM000673.2:g.64759664C>A GRCh38
NC_000011.9:g.64527136C>A , CM000673.1:g.64527136C>A GRCh37
NC_000011.8:g.64283712C>A NCBI36
NG_013018.1:g.6052G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.235G>T MANE Select ENSP00000164139.3:p.Asp79Tyr
ENST00000164139.3:c.235G>T ENSP00000164139.3:p.Asp79Tyr
ENST00000377432.7:c.235G>T ENSP00000366650.3:p.Asp79Tyr
NM_001164716.1:c.235G>T NP_001158188.1:p.Asp79Tyr
NM_005609.2:c.235G>T NP_005600.1:p.Asp79Tyr
NM_005609.3:c.235G>T NP_005600.1:p.Asp79Tyr
NM_005609.4:c.235G>T MANE Select NP_005600.1:p.Asp79Tyr
Search 100 bp 5'
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