Canonical Allele Identifier: CA381169288
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64518909C>G (hg19) chr11:g.64751437C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64751437C>G , CM000673.2:g.64751437C>G GRCh38
NC_000011.9:g.64518909C>G , CM000673.1:g.64518909C>G GRCh37
NC_000011.8:g.64275485C>G NCBI36
NG_013018.1:g.14279G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1857G>C MANE Select ENSP00000164139.3:p.Met619Ile
ENST00000164139.3:c.1857G>C ENSP00000164139.3:p.Met619Ile
ENST00000377432.7:c.1593G>C ENSP00000366650.3:p.Met531Ile
ENST00000462303.1:n.181G>C
NM_001164716.1:c.1593G>C NP_001158188.1:p.Met531Ile
NM_005609.2:c.1857G>C NP_005600.1:p.Met619Ile
NM_005609.3:c.1857G>C NP_005600.1:p.Met619Ile
NM_005609.4:c.1857G>C MANE Select NP_005600.1:p.Met619Ile
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