Canonical Allele Identifier: CA10459627
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs782678046
ExAC: X:77369292 G / T
gnomAD v2: X-77369292-G-T
gnomAD v4: X-78113795-G-T
MyVariant Identifiers: chrX:g.77369292G>T (hg19) chrX:g.78113795G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78113795G>T , CM000685.2:g.78113795G>T GRCh38
NC_000023.10:g.77369292G>T , CM000685.1:g.77369292G>T GRCh37
NC_000023.9:g.77255948G>T NCBI36
NG_008862.1:g.14627G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000373316.5:c.168G>T MANE Select ENSP00000362413.4:p.Lys56Asn
ENST00000644362.1:c.84G>T ENSP00000496140.1:p.Lys28Asn
ENST00000373316.4:c.168G>T ENSP00000362413.4:p.Lys56Asn
ENST00000477335.5:n.304G>T
ENST00000491291.1:n.160G>T
NM_000291.3:c.168G>T NP_000282.1:p.Lys56Asn
NM_000291.4:c.168G>T MANE Select NP_000282.1:p.Lys56Asn
Search 100 bp 5'
Search 100 bp 3'