Canonical Allele Identifier: CA381112623
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64527235C>G (hg19) chr11:g.64759763C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759763C>G , CM000673.2:g.64759763C>G GRCh38
NC_000011.9:g.64527235C>G , CM000673.1:g.64527235C>G GRCh37
NC_000011.8:g.64283811C>G NCBI36
NG_013018.1:g.5953G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.136G>C MANE Select ENSP00000164139.3:p.Val46Leu
ENST00000164139.3:c.136G>C ENSP00000164139.3:p.Val46Leu
ENST00000377432.7:c.136G>C ENSP00000366650.3:p.Val46Leu
NM_001164716.1:c.136G>C NP_001158188.1:p.Val46Leu
NM_005609.2:c.136G>C NP_005600.1:p.Val46Leu
NM_005609.3:c.136G>C NP_005600.1:p.Val46Leu
NM_005609.4:c.136G>C MANE Select NP_005600.1:p.Val46Leu
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