Canonical Allele Identifier: CA511310927
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs141485103
MyVariant Identifiers: chr20:g.56137927T>C (hg19)
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Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.582T>C MANE Select ENSP00000319814.4:p.His194=
ENST00000319441.5:c.582T>C ENSP00000319814.4:p.His194=
ENST00000467047.1:n.1792T>C
ENST00000470051.1:n.38T>C
ENST00000498194.1:n.524T>C
NM_002591.3:c.582T>C NP_002582.3:p.His194=
XM_011528839.1:c.186T>C XP_011527141.1:p.His62=
XM_024451888.1:c.186T>C XP_024307656.1:p.His62=
NM_002591.4:c.582T>C MANE Select NP_002582.3:p.His194=
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