Canonical Allele Identifier: CA878427835
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs1481409331
gnomAD v3: X-78123473-T-C
gnomAD v4: X-78123473-T-C
MyVariant Identifiers: chrX:g.78123473T>C (hg38)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123473T>C , CM000685.2:g.78123473T>C GRCh38
NC_000023.10:g.77378970T>C , CM000685.1:g.77378970T>C GRCh37
NC_000023.9:g.77265626T>C NCBI36
NG_008862.1:g.24305T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.936+99T>C MANE Select ENSP00000362413.4:n.936+99T>C
ENST00000644362.1:c.852+99T>C ENSP00000496140.1:n.852+99T>C
ENST00000373316.4:c.936+99T>C ENSP00000362413.4:n.936+99T>C
NM_000291.3:c.936+99T>C NP_000282.1:n.936+99T>C
NM_000291.4:c.936+99T>C MANE Select NP_000282.1:n.936+99T>C