Canonical Allele Identifier: CA10459698

Gene: PGK1

Linked Data

• dbSNP Id: rs782209854
• ExAC: X:77372795 G / T
• MyVariant Identifiers: chrX:g.77372795G>T (hg19) ; chrX:g.78117298G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.78117298G>T , CM000685.2:g.78117298G>T	GRCh38
NC_000023.10:g.77372795G>T , CM000685.1:g.77372795G>T	GRCh37
NC_000023.9:g.77259451G>T	NCBI36
NG_008862.1:g.18130G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000373316.5:c.418-14G>T MANE Select	ENSP00000362413.4:n.418-14G>T
ENST00000644362.1:c.334-14G>T	ENSP00000496140.1:n.334-14G>T
ENST00000373316.4:c.418-14G>T	ENSP00000362413.4:n.418-14G>T
ENST00000491291.1:n.410-14G>T
NM_000291.3:c.418-14G>T	NP_000282.1:n.418-14G>T
NM_000291.4:c.418-14G>T MANE Select	NP_000282.1:n.418-14G>T