Canonical Allele Identifier: CA409437191
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2146530836
MyVariant Identifiers: chr20:g.56140442C>A (hg19) chr20:g.57565386C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565386C>A , CM000682.2:g.57565386C>A GRCh38
NC_000020.10:g.56140442C>A , CM000682.1:g.56140442C>A GRCh37
NC_000020.9:g.55573848C>A NCBI36
NG_008205.1:g.9306C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1451C>A MANE Select ENSP00000319814.4:p.Pro484His
ENST00000319441.5:c.1451C>A ENSP00000319814.4:p.Pro484His
ENST00000467047.1:n.4093C>A
ENST00000485958.1:n.575C>A
NM_002591.3:c.1451C>A NP_002582.3:p.Pro484His
XM_011528839.1:c.1055C>A XP_011527141.1:p.Pro352His
XM_024451888.1:c.1055C>A XP_024307656.1:p.Pro352His
NM_002591.4:c.1451C>A MANE Select NP_002582.3:p.Pro484His
Search 100 bp 5'
Search 100 bp 3'