Canonical Allele Identifier: CA2653461287
Gene: PCK1 HGNC NCBI

Linked Data

gnomAD v4: 20-57564834-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564834T>C , CM000682.2:g.57564834T>C GRCh38
NC_000020.10:g.56139890T>C , CM000682.1:g.56139890T>C GRCh37
NC_000020.9:g.55573296T>C NCBI36
NG_008205.1:g.8754T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1319-206T>C MANE Select ENSP00000319814.4:n.1319-206T>C
ENST00000319441.5:c.1319-206T>C ENSP00000319814.4:n.1319-206T>C
ENST00000467047.1:n.3755T>C
ENST00000485958.1:n.443-206T>C
NM_002591.3:c.1319-206T>C NP_002582.3:n.1319-206T>C
XM_011528839.1:c.923-206T>C XP_011527141.1:n.923-206T>C
XM_024451888.1:c.923-206T>C XP_024307656.1:n.923-206T>C
NM_002591.4:c.1319-206T>C MANE Select NP_002582.3:n.1319-206T>C
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