Canonical Allele Identifier: CA511311149
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1158019371
gnomAD v2: 20-56140719-G-A
MyVariant Identifiers: chr20:g.56140719G>A (hg19) chr20:g.57565663G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565663G>A , CM000682.2:g.57565663G>A GRCh38
NC_000020.10:g.56140719G>A , CM000682.1:g.56140719G>A GRCh37
NC_000020.9:g.55574125G>A NCBI36
NG_008205.1:g.9583G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1728G>A MANE Select ENSP00000319814.4:p.Glu576=
ENST00000319441.5:c.1728G>A ENSP00000319814.4:p.Glu576=
ENST00000467047.1:n.4370G>A
NM_002591.3:c.1728G>A NP_002582.3:p.Glu576=
XM_011528839.1:c.1332G>A XP_011527141.1:p.Glu444=
XM_024451888.1:c.1332G>A XP_024307656.1:p.Glu444=
NM_002591.4:c.1728G>A MANE Select NP_002582.3:p.Glu576=
Search 100 bp 5'
Search 100 bp 3'