Canonical Allele Identifier: CA331585867
Gene: PGK1 HGNC NCBI

Linked Data

dbSNP Id: rs782483716
gnomAD v3: X-78118275-A-C
gnomAD v4: X-78118275-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.78118275A>C , CM000685.2:g.78118275A>C GRCh38
NC_000023.10:g.77373772A>C , CM000685.1:g.77373772A>C GRCh37
NC_000023.9:g.77260428A>C NCBI36
NG_008862.1:g.19107A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000373316.5:c.641+105A>C MANE Select ENSP00000362413.4:n.641+105A>C
ENST00000644362.1:c.557+105A>C ENSP00000496140.1:n.557+105A>C
ENST00000373316.4:c.641+105A>C ENSP00000362413.4:n.641+105A>C
ENST00000491291.1:n.633+105A>C
NM_000291.3:c.641+105A>C NP_000282.1:n.641+105A>C
NM_000291.4:c.641+105A>C MANE Select NP_000282.1:n.641+105A>C