Canonical Allele Identifier: CA517380855
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs1557248255
gnomAD v2: X-77378853-C-T
gnomAD v4: X-78123356-C-T
MyVariant Identifiers: chrX:g.77378853C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123356C>T , CM000685.2:g.78123356C>T GRCh38
NC_000023.10:g.77378853C>T , CM000685.1:g.77378853C>T GRCh37
NC_000023.9:g.77265509C>T NCBI36
NG_008862.1:g.24188C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.918C>T MANE Select ENSP00000362413.4:p.Gly306=
ENST00000644362.1:c.834C>T ENSP00000496140.1:p.Gly278=
ENST00000373316.4:c.918C>T ENSP00000362413.4:p.Gly306=
NM_000291.3:c.918C>T NP_000282.1:p.Gly306=
NM_000291.4:c.918C>T MANE Select NP_000282.1:p.Gly306=
Search 100 bp 5'
Search 100 bp 3'