Canonical Allele Identifier: CA381111949
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1349100815
gnomAD v2: 11-64527148-A-G
gnomAD v3: 11-64759676-A-G
gnomAD v4: 11-64759676-A-G
MyVariant Identifiers: chr11:g.64527148A>G (hg19) chr11:g.64759676A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759676A>G , CM000673.2:g.64759676A>G GRCh38
NC_000011.9:g.64527148A>G , CM000673.1:g.64527148A>G GRCh37
NC_000011.8:g.64283724A>G NCBI36
NG_013018.1:g.6040T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.223T>C MANE Select ENSP00000164139.3:p.Tyr75His
ENST00000164139.3:c.223T>C ENSP00000164139.3:p.Tyr75His
ENST00000377432.7:c.223T>C ENSP00000366650.3:p.Tyr75His
NM_001164716.1:c.223T>C NP_001158188.1:p.Tyr75His
NM_005609.2:c.223T>C NP_005600.1:p.Tyr75His
NM_005609.3:c.223T>C NP_005600.1:p.Tyr75His
NM_005609.4:c.223T>C MANE Select NP_005600.1:p.Tyr75His
Search 100 bp 5'
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