Canonical Allele Identifier: CA2653461266
Gene: PCK1 HGNC NCBI

Linked Data

gnomAD v4: 20-57564825-G-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564825G>C , CM000682.2:g.57564825G>C GRCh38
NC_000020.10:g.56139881G>C , CM000682.1:g.56139881G>C GRCh37
NC_000020.9:g.55573287G>C NCBI36
NG_008205.1:g.8745G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1318+212G>C MANE Select ENSP00000319814.4:n.1318+212G>C
ENST00000319441.5:c.1318+212G>C ENSP00000319814.4:n.1318+212G>C
ENST00000467047.1:n.3746G>C
ENST00000485958.1:n.442+212G>C
NM_002591.3:c.1318+212G>C NP_002582.3:n.1318+212G>C
XM_011528839.1:c.922+212G>C XP_011527141.1:n.922+212G>C
XM_024451888.1:c.922+212G>C XP_024307656.1:n.922+212G>C
NM_002591.4:c.1318+212G>C MANE Select NP_002582.3:n.1318+212G>C
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