Canonical Allele Identifier: CA381164518
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514440A>G (hg19) chr11:g.64746968A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64746968A>G , CM000673.2:g.64746968A>G GRCh38
NC_000011.9:g.64514440A>G , CM000673.1:g.64514440A>G GRCh37
NC_000011.8:g.64271016A>G NCBI36
NG_007574.1:g.3489T>C , LRG_100:g.3489T>C
NG_013018.1:g.18748T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2332T>C MANE Select ENSP00000164139.3:p.Tyr778His
ENST00000164139.3:c.2332T>C ENSP00000164139.3:p.Tyr778His
ENST00000377432.7:c.2068T>C ENSP00000366650.3:p.Tyr690His
ENST00000483742.1:n.1685T>C
NM_001164716.1:c.2068T>C NP_001158188.1:p.Tyr690His
NM_005609.2:c.2332T>C NP_005600.1:p.Tyr778His
NM_005609.3:c.2332T>C NP_005600.1:p.Tyr778His
NM_005609.4:c.2332T>C MANE Select NP_005600.1:p.Tyr778His
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