Canonical Allele Identifier: CA381168018
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs1176352993
gnomAD v2: 11-64517987-T-G
gnomAD v3: 11-64750515-T-G
gnomAD v4: 11-64750515-T-G
MyVariant Identifiers: chr11:g.64517987T>G (hg19) chr11:g.64750515T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64750515T>G , CM000673.2:g.64750515T>G GRCh38
NC_000011.9:g.64517987T>G , CM000673.1:g.64517987T>G GRCh37
NC_000011.8:g.64274563T>G NCBI36
NG_013018.1:g.15201A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.2038A>C MANE Select ENSP00000164139.3:p.Met680Leu
ENST00000164139.3:c.2038A>C ENSP00000164139.3:p.Met680Leu
ENST00000377432.7:c.1774A>C ENSP00000366650.3:p.Met592Leu
NM_001164716.1:c.1774A>C NP_001158188.1:p.Met592Leu
NM_005609.2:c.2038A>C NP_005600.1:p.Met680Leu
NM_005609.3:c.2038A>C NP_005600.1:p.Met680Leu
NM_005609.4:c.2038A>C MANE Select NP_005600.1:p.Met680Leu
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