Canonical Allele Identifier: CA6079651
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs780873398
ExAC: 11:64517976 C / T
gnomAD v2: 11-64517976-C-T
COSMIC: COSM4936476
MyVariant Identifiers: chr11:g.64517976C>T (hg19) chr11:g.64750504C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750504C>T , CM000673.2:g.64750504C>T GRCh38
NC_000011.9:g.64517976C>T , CM000673.1:g.64517976C>T GRCh37
NC_000011.8:g.64274552C>T NCBI36
NG_013018.1:g.15212G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2049G>A MANE Select ENSP00000164139.3:p.Met683Ile
ENST00000164139.3:c.2049G>A ENSP00000164139.3:p.Met683Ile
ENST00000377432.7:c.1785G>A ENSP00000366650.3:p.Met595Ile
NM_001164716.1:c.1785G>A NP_001158188.1:p.Met595Ile
NM_005609.2:c.2049G>A NP_005600.1:p.Met683Ile
NM_005609.3:c.2049G>A NP_005600.1:p.Met683Ile
NM_005609.4:c.2049G>A MANE Select NP_005600.1:p.Met683Ile
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