Canonical Allele Identifier: CA517380795
Gene: PGK1 HGNC NCBI

Linked Data

gnomAD v4: X-78123266-T-C
MyVariant Identifiers: chrX:g.77378763T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123266T>C , CM000685.2:g.78123266T>C GRCh38
NC_000023.10:g.77378763T>C , CM000685.1:g.77378763T>C GRCh37
NC_000023.9:g.77265419T>C NCBI36
NG_008862.1:g.24098T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.828T>C MANE Select ENSP00000362413.4:p.Asn276=
ENST00000644362.1:c.744T>C ENSP00000496140.1:p.Asn248=
ENST00000373316.4:c.828T>C ENSP00000362413.4:p.Asn276=
ENST00000474281.1:n.235T>C
NM_000291.3:c.828T>C NP_000282.1:p.Asn276=
NM_000291.4:c.828T>C MANE Select NP_000282.1:p.Asn276=