Canonical Allele Identifier: CA745890569
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1454813584
gnomAD v4: 20-57564867-A-G
MyVariant Identifiers: chr20:g.56139923A>G (hg19) chr20:g.57564867A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564867A>G , CM000682.2:g.57564867A>G GRCh38
NC_000020.10:g.56139923A>G , CM000682.1:g.56139923A>G GRCh37
NC_000020.9:g.55573329A>G NCBI36
NG_008205.1:g.8787A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1319-173A>G MANE Select ENSP00000319814.4:n.1319-173A>G
ENST00000319441.5:c.1319-173A>G ENSP00000319814.4:n.1319-173A>G
ENST00000467047.1:n.3788A>G
ENST00000485958.1:n.443-173A>G
NM_002591.3:c.1319-173A>G NP_002582.3:n.1319-173A>G
XM_011528839.1:c.923-173A>G XP_011527141.1:n.923-173A>G
XM_024451888.1:c.923-173A>G XP_024307656.1:n.923-173A>G
NM_002591.4:c.1319-173A>G MANE Select NP_002582.3:n.1319-173A>G
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