Canonical Allele Identifier: CA409437560
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2070195352
MyVariant Identifiers: chr20:g.56140605G>C (hg19) chr20:g.57565549G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565549G>C , CM000682.2:g.57565549G>C GRCh38
NC_000020.10:g.56140605G>C , CM000682.1:g.56140605G>C GRCh37
NC_000020.9:g.55574011G>C NCBI36
NG_008205.1:g.9469G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1614G>C MANE Select ENSP00000319814.4:p.Glu538Asp
ENST00000319441.5:c.1614G>C ENSP00000319814.4:p.Glu538Asp
ENST00000467047.1:n.4256G>C
NM_002591.3:c.1614G>C NP_002582.3:p.Glu538Asp
XM_011528839.1:c.1218G>C XP_011527141.1:p.Glu406Asp
XM_024451888.1:c.1218G>C XP_024307656.1:p.Glu406Asp
NM_002591.4:c.1614G>C MANE Select NP_002582.3:p.Glu538Asp
Search 100 bp 5'
Search 100 bp 3'