Canonical Allele Identifier: CA381167977
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64750500-T-A
MyVariant Identifiers: chr11:g.64517972T>A (hg19) chr11:g.64750500T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750500T>A , CM000673.2:g.64750500T>A GRCh38
NC_000011.9:g.64517972T>A , CM000673.1:g.64517972T>A GRCh37
NC_000011.8:g.64274548T>A NCBI36
NG_013018.1:g.15216A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2053A>T MANE Select ENSP00000164139.3:p.Asn685Tyr
ENST00000164139.3:c.2053A>T ENSP00000164139.3:p.Asn685Tyr
ENST00000377432.7:c.1789A>T ENSP00000366650.3:p.Asn597Tyr
NM_001164716.1:c.1789A>T NP_001158188.1:p.Asn597Tyr
NM_005609.2:c.2053A>T NP_005600.1:p.Asn685Tyr
NM_005609.3:c.2053A>T NP_005600.1:p.Asn685Tyr
NM_005609.4:c.2053A>T MANE Select NP_005600.1:p.Asn685Tyr
Search 100 bp 5'
Search 100 bp 3'