Canonical Allele Identifier: CA643006587
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs1557248202
gnomAD v2: X-77378542-T-A
gnomAD v3: X-78123045-T-A
gnomAD v4: X-78123045-T-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78123045T>A , CM000685.2:g.78123045T>A GRCh38
NC_000023.10:g.77378542T>A , CM000685.1:g.77378542T>A GRCh37
NC_000023.9:g.77265198T>A NCBI36
NG_008862.1:g.23877T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.756+96T>A MANE Select ENSP00000362413.4:n.756+96T>A
ENST00000644362.1:c.672+96T>A ENSP00000496140.1:n.672+96T>A
ENST00000373316.4:c.756+96T>A ENSP00000362413.4:n.756+96T>A
ENST00000474281.1:n.163+44T>A
NM_000291.3:c.756+96T>A NP_000282.1:n.756+96T>A
NM_000291.4:c.756+96T>A MANE Select NP_000282.1:n.756+96T>A