Canonical Allele Identifier: CA938841203
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs149330285
gnomAD v3: 11-64758579-C-G
gnomAD v4: 11-64758579-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64758579C>G , CM000673.2:g.64758579C>G GRCh38
NC_000011.9:g.64526051C>G , CM000673.1:g.64526051C>G GRCh37
NC_000011.8:g.64282627C>G NCBI36
NG_013018.1:g.7137G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000164139.4:c.345+24G>C MANE Select ENSP00000164139.3:n.345+24G>C
ENST00000164139.3:c.345+24G>C ENSP00000164139.3:n.345+24G>C
ENST00000377432.7:c.244-313G>C ENSP00000366650.3:n.244-313G>C
NM_001164716.1:c.244-313G>C NP_001158188.1:n.244-313G>C
NM_005609.2:c.345+24G>C NP_005600.1:n.345+24G>C
NM_005609.3:c.345+24G>C NP_005600.1:n.345+24G>C
NM_005609.4:c.345+24G>C MANE Select NP_005600.1:n.345+24G>C
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