Canonical Allele Identifier: CA381109360
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64525804T>A (hg19) chr11:g.64758332T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758332T>A , CM000673.2:g.64758332T>A GRCh38
NC_000011.9:g.64525804T>A , CM000673.1:g.64525804T>A GRCh37
NC_000011.8:g.64282380T>A NCBI36
NG_013018.1:g.7384A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.442A>T MANE Select ENSP00000164139.3:p.Met148Leu
ENST00000164139.3:c.442A>T ENSP00000164139.3:p.Met148Leu
ENST00000377432.7:c.244-66A>T ENSP00000366650.3:n.244-66A>T
NM_001164716.1:c.244-66A>T NP_001158188.1:n.244-66A>T
NM_005609.2:c.442A>T NP_005600.1:p.Met148Leu
NM_005609.3:c.442A>T NP_005600.1:p.Met148Leu
NM_005609.4:c.442A>T MANE Select NP_005600.1:p.Met148Leu
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