Canonical Allele Identifier: CA1978918908
Gene: PYGM HGNC NCBI

Linked Data

dbSNP Id: rs756015534
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747205C>G , CM000673.2:g.64747205C>G GRCh38
NC_000011.9:g.64514677C>G , CM000673.1:g.64514677C>G GRCh37
NC_000011.8:g.64271253C>G NCBI36
NG_007574.1:g.3252G>C , LRG_100:g.3252G>C
NG_013018.1:g.18511G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2312+19G>C MANE Select ENSP00000164139.3:n.2312+19G>C
ENST00000164139.3:c.2312+19G>C ENSP00000164139.3:n.2312+19G>C
ENST00000377432.7:c.2048+19G>C ENSP00000366650.3:n.2048+19G>C
ENST00000483742.1:n.1665+19G>C
NM_001164716.1:c.2048+19G>C NP_001158188.1:n.2048+19G>C
NM_005609.2:c.2312+19G>C NP_005600.1:n.2312+19G>C
NM_005609.3:c.2312+19G>C NP_005600.1:n.2312+19G>C
NM_005609.4:c.2312+19G>C MANE Select NP_005600.1:n.2312+19G>C
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