Canonical Allele Identifier: CA474958589
Gene: PYGM HGNC NCBI

Linked Data

MyVariant Identifiers: chr11:g.64514770C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747298C>G , CM000673.2:g.64747298C>G GRCh38
NC_000011.9:g.64514770C>G , CM000673.1:g.64514770C>G GRCh37
NC_000011.8:g.64271346C>G NCBI36
NG_007574.1:g.3159G>C , LRG_100:g.3159G>C
NG_013018.1:g.18418G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2238G>C MANE Select ENSP00000164139.3:p.Leu746=
ENST00000164139.3:c.2238G>C ENSP00000164139.3:p.Leu746=
ENST00000377432.7:c.1974G>C ENSP00000366650.3:p.Leu658=
ENST00000483742.1:n.1591G>C
NM_001164716.1:c.1974G>C NP_001158188.1:p.Leu658=
NM_005609.2:c.2238G>C NP_005600.1:p.Leu746=
NM_005609.3:c.2238G>C NP_005600.1:p.Leu746=
NM_005609.4:c.2238G>C MANE Select NP_005600.1:p.Leu746=
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