Canonical Allele Identifier: CA413717282
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs1412159345
gnomAD v2: X-77380390-A-G
gnomAD v3: X-78124893-A-G
gnomAD v4: X-78124893-A-G
MyVariant Identifiers: chrX:g.77380390A>G (hg19) chrX:g.78124893A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78124893A>G , CM000685.2:g.78124893A>G GRCh38
NC_000023.10:g.77380390A>G , CM000685.1:g.77380390A>G GRCh37
NC_000023.9:g.77267046A>G NCBI36
NG_008862.1:g.25725A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000373316.5:c.956A>G MANE Select ENSP00000362413.4:p.Glu319Gly
ENST00000644362.1:c.872A>G ENSP00000496140.1:p.Glu291Gly
ENST00000373316.4:c.956A>G ENSP00000362413.4:p.Glu319Gly
NM_000291.3:c.956A>G NP_000282.1:p.Glu319Gly
NM_000291.4:c.956A>G MANE Select NP_000282.1:p.Glu319Gly
Search 100 bp 5'
Search 100 bp 3'