Canonical Allele Identifier: CA2653461262
Gene: PCK1 HGNC NCBI

Linked Data

gnomAD v4: 20-57564824-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564824T>G , CM000682.2:g.57564824T>G GRCh38
NC_000020.10:g.56139880T>G , CM000682.1:g.56139880T>G GRCh37
NC_000020.9:g.55573286T>G NCBI36
NG_008205.1:g.8744T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1318+211T>G MANE Select ENSP00000319814.4:n.1318+211T>G
ENST00000319441.5:c.1318+211T>G ENSP00000319814.4:n.1318+211T>G
ENST00000467047.1:n.3745T>G
ENST00000485958.1:n.442+211T>G
NM_002591.3:c.1318+211T>G NP_002582.3:n.1318+211T>G
XM_011528839.1:c.922+211T>G XP_011527141.1:n.922+211T>G
XM_024451888.1:c.922+211T>G XP_024307656.1:n.922+211T>G
NM_002591.4:c.1318+211T>G MANE Select NP_002582.3:n.1318+211T>G
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