Canonical Allele Identifier: CA1018823301
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2070162786
gnomAD v3: 20-57562934-A-T
gnomAD v4: 20-57562934-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562934A>T , CM000682.2:g.57562934A>T GRCh38
NC_000020.10:g.56137990A>T , CM000682.1:g.56137990A>T GRCh37
NC_000020.9:g.55571396A>T NCBI36
NG_008205.1:g.6854A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.610+35A>T MANE Select ENSP00000319814.4:n.610+35A>T
ENST00000319441.5:c.610+35A>T ENSP00000319814.4:n.610+35A>T
ENST00000467047.1:n.1855A>T
ENST00000470051.1:n.101A>T
ENST00000498194.1:n.552+35A>T
NM_002591.3:c.610+35A>T NP_002582.3:n.610+35A>T
XM_011528839.1:c.214+35A>T XP_011527141.1:n.214+35A>T
XM_024451888.1:c.214+35A>T XP_024307656.1:n.214+35A>T
NM_002591.4:c.610+35A>T MANE Select NP_002582.3:n.610+35A>T
Search 100 bp 5'
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