Canonical Allele Identifier: CA10459739
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs374222053
ExAC: X:77373710 C / T
gnomAD v2: X-77373710-C-T
gnomAD v3: X-78118213-C-T
gnomAD v4: X-78118213-C-T
MyVariant Identifiers: chrX:g.77373710C>T (hg19) chrX:g.78118213C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78118213C>T , CM000685.2:g.78118213C>T GRCh38
NC_000023.10:g.77373710C>T , CM000685.1:g.77373710C>T GRCh37
NC_000023.9:g.77260366C>T NCBI36
NG_008862.1:g.19045C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.641+43C>T MANE Select ENSP00000362413.4:n.641+43C>T
ENST00000644362.1:c.557+43C>T ENSP00000496140.1:n.557+43C>T
ENST00000373316.4:c.641+43C>T ENSP00000362413.4:n.641+43C>T
ENST00000491291.1:n.633+43C>T
NM_000291.3:c.641+43C>T NP_000282.1:n.641+43C>T
NM_000291.4:c.641+43C>T MANE Select NP_000282.1:n.641+43C>T
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