Canonical Allele Identifier: CA1978919694
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2058366344
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752901A>G , CM000673.2:g.64752901A>G GRCh38
NC_000011.9:g.64520373A>G , CM000673.1:g.64520373A>G GRCh37
NC_000011.8:g.64276949A>G NCBI36
NG_013018.1:g.12815T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1518+172T>C MANE Select ENSP00000164139.3:n.1518+172T>C
ENST00000164139.3:c.1518+172T>C ENSP00000164139.3:n.1518+172T>C
ENST00000377432.7:c.1254+172T>C ENSP00000366650.3:n.1254+172T>C
NM_001164716.1:c.1254+172T>C NP_001158188.1:n.1254+172T>C
NM_005609.2:c.1518+172T>C NP_005600.1:n.1518+172T>C
NM_005609.3:c.1518+172T>C NP_005600.1:n.1518+172T>C
NM_005609.4:c.1518+172T>C MANE Select NP_005600.1:n.1518+172T>C
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