Canonical Allele Identifier: CA2653461250
Gene: PCK1 HGNC NCBI

Linked Data

gnomAD v4: 20-57564820-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564820C>T , CM000682.2:g.57564820C>T GRCh38
NC_000020.10:g.56139876C>T , CM000682.1:g.56139876C>T GRCh37
NC_000020.9:g.55573282C>T NCBI36
NG_008205.1:g.8740C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1318+207C>T MANE Select ENSP00000319814.4:n.1318+207C>T
ENST00000319441.5:c.1318+207C>T ENSP00000319814.4:n.1318+207C>T
ENST00000467047.1:n.3741C>T
ENST00000485958.1:n.442+207C>T
NM_002591.3:c.1318+207C>T NP_002582.3:n.1318+207C>T
XM_011528839.1:c.922+207C>T XP_011527141.1:n.922+207C>T
XM_024451888.1:c.922+207C>T XP_024307656.1:n.922+207C>T
NM_002591.4:c.1318+207C>T MANE Select NP_002582.3:n.1318+207C>T
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