Canonical Allele Identifier: CA331585826
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs782244239
gnomAD v3: X-78117309-T-C
gnomAD v4: X-78117309-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78117309T>C , CM000685.2:g.78117309T>C GRCh38
NC_000023.10:g.77372806T>C , CM000685.1:g.77372806T>C GRCh37
NC_000023.9:g.77259462T>C NCBI36
NG_008862.1:g.18141T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000373316.5:c.418-3T>C MANE Select ENSP00000362413.4:n.418-3T>C
ENST00000644362.1:c.334-3T>C ENSP00000496140.1:n.334-3T>C
ENST00000373316.4:c.418-3T>C ENSP00000362413.4:n.418-3T>C
ENST00000491291.1:n.410-3T>C
NM_000291.3:c.418-3T>C NP_000282.1:n.418-3T>C
NM_000291.4:c.418-3T>C MANE Select NP_000282.1:n.418-3T>C