Canonical Allele Identifier: CA642709318
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs1557247661
gnomAD v2: X-77373714-T-C
gnomAD v4: X-78118217-T-C
MyVariant Identifiers: chrX:g.77373714T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78118217T>C , CM000685.2:g.78118217T>C GRCh38
NC_000023.10:g.77373714T>C , CM000685.1:g.77373714T>C GRCh37
NC_000023.9:g.77260370T>C NCBI36
NG_008862.1:g.19049T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.641+47T>C MANE Select ENSP00000362413.4:n.641+47T>C
ENST00000644362.1:c.557+47T>C ENSP00000496140.1:n.557+47T>C
ENST00000373316.4:c.641+47T>C ENSP00000362413.4:n.641+47T>C
ENST00000491291.1:n.633+47T>C
NM_000291.3:c.641+47T>C NP_000282.1:n.641+47T>C
NM_000291.4:c.641+47T>C MANE Select NP_000282.1:n.641+47T>C
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