Canonical Allele Identifier: CA381168006
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64517984T>A (hg19) chr11:g.64750512T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750512T>A , CM000673.2:g.64750512T>A GRCh38
NC_000011.9:g.64517984T>A , CM000673.1:g.64517984T>A GRCh37
NC_000011.8:g.64274560T>A NCBI36
NG_013018.1:g.15204A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2041A>T MANE Select ENSP00000164139.3:p.Lys681Ter
ENST00000164139.3:c.2041A>T ENSP00000164139.3:p.Lys681Ter
ENST00000377432.7:c.1777A>T ENSP00000366650.3:p.Lys593Ter
NM_001164716.1:c.1777A>T NP_001158188.1:p.Lys593Ter
NM_005609.2:c.2041A>T NP_005600.1:p.Lys681Ter
NM_005609.3:c.2041A>T NP_005600.1:p.Lys681Ter
NM_005609.4:c.2041A>T MANE Select NP_005600.1:p.Lys681Ter
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