Canonical Allele Identifier: CA9922413
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs769973857
ExAC: 20:56140496 A / G
gnomAD v2: 20-56140496-A-G
gnomAD v4: 20-57565440-A-G
MyVariant Identifiers: chr20:g.56140496A>G (hg19) chr20:g.57565440A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565440A>G , CM000682.2:g.57565440A>G GRCh38
NC_000020.10:g.56140496A>G , CM000682.1:g.56140496A>G GRCh37
NC_000020.9:g.55573902A>G NCBI36
NG_008205.1:g.9360A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1505A>G MANE Select ENSP00000319814.4:p.Gln502Arg
ENST00000319441.5:c.1505A>G ENSP00000319814.4:p.Gln502Arg
ENST00000467047.1:n.4147A>G
NM_002591.3:c.1505A>G NP_002582.3:p.Gln502Arg
XM_011528839.1:c.1109A>G XP_011527141.1:p.Gln370Arg
XM_024451888.1:c.1109A>G XP_024307656.1:p.Gln370Arg
NM_002591.4:c.1505A>G MANE Select NP_002582.3:p.Gln502Arg
Search 100 bp 5'
Search 100 bp 3'