Canonical Allele Identifier: CA9922412
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs748319385
ExAC: 20:56140478 A / G
gnomAD v2: 20-56140478-A-G
gnomAD v3: 20-57565422-A-G
gnomAD v4: 20-57565422-A-G
MyVariant Identifiers: chr20:g.56140478A>G (hg19) chr20:g.57565422A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565422A>G , CM000682.2:g.57565422A>G GRCh38
NC_000020.10:g.56140478A>G , CM000682.1:g.56140478A>G GRCh37
NC_000020.9:g.55573884A>G NCBI36
NG_008205.1:g.9342A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1487A>G MANE Select ENSP00000319814.4:p.His496Arg
ENST00000319441.5:c.1487A>G ENSP00000319814.4:p.His496Arg
ENST00000467047.1:n.4129A>G
NM_002591.3:c.1487A>G NP_002582.3:p.His496Arg
XM_011528839.1:c.1091A>G XP_011527141.1:p.His364Arg
XM_024451888.1:c.1091A>G XP_024307656.1:p.His364Arg
NM_002591.4:c.1487A>G MANE Select NP_002582.3:p.His496Arg
Search 100 bp 5'
Search 100 bp 3'