Canonical Allele Identifier: CA409437318
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs774473179

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565441G>C , CM000682.2:g.57565441G>C GRCh38
NC_000020.10:g.56140497G>C , CM000682.1:g.56140497G>C GRCh37
NC_000020.9:g.55573903G>C NCBI36
NG_008205.1:g.9361G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1506G>C MANE Select ENSP00000319814.4:p.Gln502His
ENST00000319441.5:c.1506G>C ENSP00000319814.4:p.Gln502His
ENST00000467047.1:n.4148G>C
NM_002591.3:c.1506G>C NP_002582.3:p.Gln502His
XM_011528839.1:c.1110G>C XP_011527141.1:p.Gln370His
XM_024451888.1:c.1110G>C XP_024307656.1:p.Gln370His
NM_002591.4:c.1506G>C MANE Select NP_002582.3:p.Gln502His