Canonical Allele Identifier: CA381165650
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514792A>C (hg19) chr11:g.64747320A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747320A>C , CM000673.2:g.64747320A>C GRCh38
NC_000011.9:g.64514792A>C , CM000673.1:g.64514792A>C GRCh37
NC_000011.8:g.64271368A>C NCBI36
NG_007574.1:g.3137T>G , LRG_100:g.3137T>G
NG_013018.1:g.18396T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2216T>G MANE Select ENSP00000164139.3:p.Leu739Arg
ENST00000164139.3:c.2216T>G ENSP00000164139.3:p.Leu739Arg
ENST00000377432.7:c.1952T>G ENSP00000366650.3:p.Leu651Arg
ENST00000483742.1:n.1569T>G
NM_001164716.1:c.1952T>G NP_001158188.1:p.Leu651Arg
NM_005609.2:c.2216T>G NP_005600.1:p.Leu739Arg
NM_005609.3:c.2216T>G NP_005600.1:p.Leu739Arg
NM_005609.4:c.2216T>G MANE Select NP_005600.1:p.Leu739Arg
Search 100 bp 5'
Search 100 bp 3'