Canonical Allele Identifier: CA1018823353
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2070164560
gnomAD v3: 20-57563019-T-G
gnomAD v4: 20-57563019-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57563019T>G , CM000682.2:g.57563019T>G GRCh38
NC_000020.10:g.56138075T>G , CM000682.1:g.56138075T>G GRCh37
NC_000020.9:g.55571481T>G NCBI36
NG_008205.1:g.6939T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.611-9T>G MANE Select ENSP00000319814.4:n.611-9T>G
ENST00000319441.5:c.611-9T>G ENSP00000319814.4:n.611-9T>G
ENST00000467047.1:n.1940T>G
ENST00000470051.1:n.186T>G
ENST00000498194.1:n.553-9T>G
NM_002591.3:c.611-9T>G NP_002582.3:n.611-9T>G
XM_011528839.1:c.215-9T>G XP_011527141.1:n.215-9T>G
XM_024451888.1:c.215-9T>G XP_024307656.1:n.215-9T>G
NM_002591.4:c.611-9T>G MANE Select NP_002582.3:n.611-9T>G
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