Canonical Allele Identifier: CA409437662
Gene: PCK1 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565596C>A , CM000682.2:g.57565596C>A GRCh38
NC_000020.10:g.56140652C>A , CM000682.1:g.56140652C>A GRCh37
NC_000020.9:g.55574058C>A NCBI36
NG_008205.1:g.9516C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1661C>A MANE Select ENSP00000319814.4:p.Pro554His
ENST00000319441.5:c.1661C>A ENSP00000319814.4:p.Pro554His
ENST00000467047.1:n.4303C>A
NM_002591.3:c.1661C>A NP_002582.3:p.Pro554His
XM_011528839.1:c.1265C>A XP_011527141.1:p.Pro422His
XM_024451888.1:c.1265C>A XP_024307656.1:p.Pro422His
NM_002591.4:c.1661C>A MANE Select NP_002582.3:p.Pro554His