Canonical Allele Identifier: CA381167586
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64517894T>G (hg19) chr11:g.64750422T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750422T>G , CM000673.2:g.64750422T>G GRCh38
NC_000011.9:g.64517894T>G , CM000673.1:g.64517894T>G GRCh37
NC_000011.8:g.64274470T>G NCBI36
NG_007574.1:g.35A>C , LRG_100:g.35A>C
NG_013018.1:g.15294A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2131A>C MANE Select ENSP00000164139.3:p.Ile711Leu
ENST00000164139.3:c.2131A>C ENSP00000164139.3:p.Ile711Leu
ENST00000377432.7:c.1867A>C ENSP00000366650.3:p.Ile623Leu
NM_001164716.1:c.1867A>C NP_001158188.1:p.Ile623Leu
NM_005609.2:c.2131A>C NP_005600.1:p.Ile711Leu
NM_005609.3:c.2131A>C NP_005600.1:p.Ile711Leu
NM_005609.4:c.2131A>C MANE Select NP_005600.1:p.Ile711Leu
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