Canonical Allele Identifier: CA381112838
Gene: PYGM HGNC NCBI

Linked Data

ClinVar Variation Id: 936858
ClinVar RCV Id: RCV001205755
dbSNP Id: rs1394188143
gnomAD v2: 11-64527264-A-C
gnomAD v3: 11-64759792-A-C
gnomAD v4: 11-64759792-A-C
MyVariant Identifiers: chr11:g.64527264A>C (hg19) chr11:g.64759792A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64759792A>C , CM000673.2:g.64759792A>C GRCh38
NC_000011.9:g.64527264A>C , CM000673.1:g.64527264A>C GRCh37
NC_000011.8:g.64283840A>C NCBI36
NG_013018.1:g.5924T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.107T>G MANE Select ENSP00000164139.3:p.Leu36Arg
ENST00000164139.3:c.107T>G ENSP00000164139.3:p.Leu36Arg
ENST00000377432.7:c.107T>G ENSP00000366650.3:p.Leu36Arg
NM_001164716.1:c.107T>G NP_001158188.1:p.Leu36Arg
NM_005609.2:c.107T>G NP_005600.1:p.Leu36Arg
NM_005609.3:c.107T>G NP_005600.1:p.Leu36Arg
NM_005609.4:c.107T>G MANE Select NP_005600.1:p.Leu36Arg
Search 100 bp 5'
Search 100 bp 3'