Canonical Allele Identifier: CA642708619
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs1375801190
gnomAD v2: X-77379009-G-A
gnomAD v3: X-78123512-G-A
gnomAD v4: X-78123512-G-A
MyVariant Identifiers: chrX:g.77379009G>A (hg19) chrX:g.78123512G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123512G>A , CM000685.2:g.78123512G>A GRCh38
NC_000023.10:g.77379009G>A , CM000685.1:g.77379009G>A GRCh37
NC_000023.9:g.77265665G>A NCBI36
NG_008862.1:g.24344G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.936+138G>A MANE Select ENSP00000362413.4:n.936+138G>A
ENST00000644362.1:c.852+138G>A ENSP00000496140.1:n.852+138G>A
ENST00000373316.4:c.936+138G>A ENSP00000362413.4:n.936+138G>A
NM_000291.3:c.936+138G>A NP_000282.1:n.936+138G>A
NM_000291.4:c.936+138G>A MANE Select NP_000282.1:n.936+138G>A
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