Canonical Allele Identifier: CA2724511799
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs2135831769
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64752729A>G , CM000673.2:g.64752729A>G GRCh38
NC_000011.9:g.64520201A>G , CM000673.1:g.64520201A>G GRCh37
NC_000011.8:g.64276777A>G NCBI36
NG_013018.1:g.12987T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.1519-225T>C MANE Select ENSP00000164139.3:n.1519-225T>C
ENST00000164139.3:c.1519-225T>C ENSP00000164139.3:n.1519-225T>C
ENST00000377432.7:c.1255-225T>C ENSP00000366650.3:n.1255-225T>C
NM_001164716.1:c.1255-225T>C NP_001158188.1:n.1255-225T>C
NM_005609.2:c.1519-225T>C NP_005600.1:n.1519-225T>C
NM_005609.3:c.1519-225T>C NP_005600.1:n.1519-225T>C
NM_005609.4:c.1519-225T>C MANE Select NP_005600.1:n.1519-225T>C
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