Canonical Allele Identifier: CA10459725
Gene: PGK1 HGNC NCBI

Linked Data

ClinVar Variation Id: 558817
ClinVar RCV Id: RCV000675383 RCV001788320
dbSNP Id: rs2007039
ExAC: X:77373524 C / T
gnomAD v2: X-77373524-C-T
gnomAD v3: X-78118027-C-T
gnomAD v4: X-78118027-C-T
MyVariant Identifiers: chrX:g.77373524C>T (hg19) chrX:g.78118027C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78118027C>T , CM000685.2:g.78118027C>T GRCh38
NC_000023.10:g.77373524C>T , CM000685.1:g.77373524C>T GRCh37
NC_000023.9:g.77260180C>T NCBI36
NG_008862.1:g.18859C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.522-24C>T MANE Select ENSP00000362413.4:n.522-24C>T
ENST00000644362.1:c.438-24C>T ENSP00000496140.1:n.438-24C>T
ENST00000373316.4:c.522-24C>T ENSP00000362413.4:n.522-24C>T
ENST00000491291.1:n.514-24C>T
NM_000291.3:c.522-24C>T NP_000282.1:n.522-24C>T
NM_000291.4:c.522-24C>T MANE Select NP_000282.1:n.522-24C>T
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