Canonical Allele Identifier: CA2694156240
Gene: PGK1 HGNC NCBI

Linked Data

gnomAD v4: X-78123518-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123518C>T , CM000685.2:g.78123518C>T GRCh38
NC_000023.10:g.77379015C>T , CM000685.1:g.77379015C>T GRCh37
NC_000023.9:g.77265671C>T NCBI36
NG_008862.1:g.24350C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.936+144C>T MANE Select ENSP00000362413.4:n.936+144C>T
ENST00000644362.1:c.852+144C>T ENSP00000496140.1:n.852+144C>T
ENST00000373316.4:c.936+144C>T ENSP00000362413.4:n.936+144C>T
NM_000291.3:c.936+144C>T NP_000282.1:n.936+144C>T
NM_000291.4:c.936+144C>T MANE Select NP_000282.1:n.936+144C>T
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