Canonical Allele Identifier: CA745890548
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1286157122
gnomAD v3: 20-57564826-T-C
gnomAD v4: 20-57564826-T-C
MyVariant Identifiers: chr20:g.56139882T>C (hg19) chr20:g.57564826T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564826T>C , CM000682.2:g.57564826T>C GRCh38
NC_000020.10:g.56139882T>C , CM000682.1:g.56139882T>C GRCh37
NC_000020.9:g.55573288T>C NCBI36
NG_008205.1:g.8746T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1319-214T>C MANE Select ENSP00000319814.4:n.1319-214T>C
ENST00000319441.5:c.1319-214T>C ENSP00000319814.4:n.1319-214T>C
ENST00000467047.1:n.3747T>C
ENST00000485958.1:n.443-214T>C
NM_002591.3:c.1319-214T>C NP_002582.3:n.1319-214T>C
XM_011528839.1:c.923-214T>C XP_011527141.1:n.923-214T>C
XM_024451888.1:c.923-214T>C XP_024307656.1:n.923-214T>C
NM_002591.4:c.1319-214T>C MANE Select NP_002582.3:n.1319-214T>C
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