Canonical Allele Identifier: CA9922066
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs141485103
ExAC: 20:56137927 T / G
gnomAD v3: 20-57562871-T-G
gnomAD v4: 20-57562871-T-G
MyVariant Identifiers: chr20:g.56137927T>G (hg19) chr20:g.57562871T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562871T>G , CM000682.2:g.57562871T>G GRCh38
NC_000020.10:g.56137927T>G , CM000682.1:g.56137927T>G GRCh37
NC_000020.9:g.55571333T>G NCBI36
NG_008205.1:g.6791T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.582T>G MANE Select ENSP00000319814.4:p.His194Gln
ENST00000319441.5:c.582T>G ENSP00000319814.4:p.His194Gln
ENST00000467047.1:n.1792T>G
ENST00000470051.1:n.38T>G
ENST00000498194.1:n.524T>G
NM_002591.3:c.582T>G NP_002582.3:p.His194Gln
XM_011528839.1:c.186T>G XP_011527141.1:p.His62Gln
XM_024451888.1:c.186T>G XP_024307656.1:p.His62Gln
NM_002591.4:c.582T>G MANE Select NP_002582.3:p.His194Gln
Search 100 bp 5'
Search 100 bp 3'