Canonical Allele Identifier: CA331586166
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs782080772
gnomAD v3: X-78123561-T-TA
gnomAD v4: X-78123561-T-TA
MyVariant Identifiers: chrX:g.77379058_77379059insA (hg19) chrX:g.78123561_78123562insA (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123562dup , CM000685.2:g.78123562dup GRCh38
NC_000023.10:g.77379059dup , CM000685.1:g.77379059dup GRCh37
NC_000023.9:g.77265715dup NCBI36
NG_008862.1:g.24394dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.936+188dup MANE Select ENSP00000362413.4:n.936+188dup
ENST00000644362.1:c.852+188dup ENSP00000496140.1:n.852+188dup
ENST00000373316.4:c.936+188dup ENSP00000362413.4:n.936+188dup
NM_000291.3:c.936+188dup NP_000282.1:n.936+188dup
NM_000291.4:c.936+188dup MANE Select NP_000282.1:n.936+188dup
Search 100 bp 5'
Search 100 bp 3'