Canonical Allele Identifier: CA2614199479
Gene: PYGM HGNC NCBI

Linked Data

gnomAD v4: 11-64747199-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.64747199G>C , CM000673.2:g.64747199G>C GRCh38
NC_000011.9:g.64514671G>C , CM000673.1:g.64514671G>C GRCh37
NC_000011.8:g.64271247G>C NCBI36
NG_007574.1:g.3258C>G , LRG_100:g.3258C>G
NG_013018.1:g.18517C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000164139.4:c.2312+25C>G MANE Select ENSP00000164139.3:n.2312+25C>G
ENST00000164139.3:c.2312+25C>G ENSP00000164139.3:n.2312+25C>G
ENST00000377432.7:c.2048+25C>G ENSP00000366650.3:n.2048+25C>G
ENST00000483742.1:n.1665+25C>G
NM_001164716.1:c.2048+25C>G NP_001158188.1:n.2048+25C>G
NM_005609.2:c.2312+25C>G NP_005600.1:n.2312+25C>G
NM_005609.3:c.2312+25C>G NP_005600.1:n.2312+25C>G
NM_005609.4:c.2312+25C>G MANE Select NP_005600.1:n.2312+25C>G
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