Canonical Allele Identifier: CA2694156242
Gene: PGK1 HGNC NCBI

Linked Data

gnomAD v4: X-78123521-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123521T>C , CM000685.2:g.78123521T>C GRCh38
NC_000023.10:g.77379018T>C , CM000685.1:g.77379018T>C GRCh37
NC_000023.9:g.77265674T>C NCBI36
NG_008862.1:g.24353T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.936+147T>C MANE Select ENSP00000362413.4:n.936+147T>C
ENST00000644362.1:c.852+147T>C ENSP00000496140.1:n.852+147T>C
ENST00000373316.4:c.936+147T>C ENSP00000362413.4:n.936+147T>C
NM_000291.3:c.936+147T>C NP_000282.1:n.936+147T>C
NM_000291.4:c.936+147T>C MANE Select NP_000282.1:n.936+147T>C
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