Canonical Allele Identifier: CA878427428
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs1401392585
gnomAD v4: X-78123046-G-A
MyVariant Identifiers: chrX:g.78123046G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123046G>A , CM000685.2:g.78123046G>A GRCh38
NC_000023.10:g.77378543G>A , CM000685.1:g.77378543G>A GRCh37
NC_000023.9:g.77265199G>A NCBI36
NG_008862.1:g.23878G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.756+97G>A MANE Select ENSP00000362413.4:n.756+97G>A
ENST00000644362.1:c.672+97G>A ENSP00000496140.1:n.672+97G>A
ENST00000373316.4:c.756+97G>A ENSP00000362413.4:n.756+97G>A
ENST00000474281.1:n.163+45G>A
NM_000291.3:c.756+97G>A NP_000282.1:n.756+97G>A
NM_000291.4:c.756+97G>A MANE Select NP_000282.1:n.756+97G>A
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