Canonical Allele Identifier: CA2653460091
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2070163102
gnomAD v4: 20-57562952-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562952C>A , CM000682.2:g.57562952C>A GRCh38
NC_000020.10:g.56138008C>A , CM000682.1:g.56138008C>A GRCh37
NC_000020.9:g.55571414C>A NCBI36
NG_008205.1:g.6872C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.610+53C>A MANE Select ENSP00000319814.4:n.610+53C>A
ENST00000319441.5:c.610+53C>A ENSP00000319814.4:n.610+53C>A
ENST00000467047.1:n.1873C>A
ENST00000470051.1:n.119C>A
ENST00000498194.1:n.552+53C>A
NM_002591.3:c.610+53C>A NP_002582.3:n.610+53C>A
XM_011528839.1:c.214+53C>A XP_011527141.1:n.214+53C>A
XM_024451888.1:c.214+53C>A XP_024307656.1:n.214+53C>A
NM_002591.4:c.610+53C>A MANE Select NP_002582.3:n.610+53C>A
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