Canonical Allele Identifier: CA2371896392
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1384559873
gnomAD v4: 20-57562983-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562983A>C , CM000682.2:g.57562983A>C GRCh38
NC_000020.10:g.56138039A>C , CM000682.1:g.56138039A>C GRCh37
NC_000020.9:g.55571445A>C NCBI36
NG_008205.1:g.6903A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.611-45A>C MANE Select ENSP00000319814.4:n.611-45A>C
ENST00000319441.5:c.611-45A>C ENSP00000319814.4:n.611-45A>C
ENST00000467047.1:n.1904A>C
ENST00000470051.1:n.150A>C
ENST00000498194.1:n.553-45A>C
NM_002591.3:c.611-45A>C NP_002582.3:n.611-45A>C
XM_011528839.1:c.215-45A>C XP_011527141.1:n.215-45A>C
XM_024451888.1:c.215-45A>C XP_024307656.1:n.215-45A>C
NM_002591.4:c.611-45A>C MANE Select NP_002582.3:n.611-45A>C
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