Canonical Allele Identifier: CA316281285
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1004909350
gnomAD v2: 20-56139888-G-A
gnomAD v3: 20-57564832-G-A
gnomAD v4: 20-57564832-G-A
MyVariant Identifiers: chr20:g.56139888G>A (hg19) chr20:g.57564832G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57564832G>A , CM000682.2:g.57564832G>A GRCh38
NC_000020.10:g.56139888G>A , CM000682.1:g.56139888G>A GRCh37
NC_000020.9:g.55573294G>A NCBI36
NG_008205.1:g.8752G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000319441.6:c.1319-208G>A MANE Select ENSP00000319814.4:n.1319-208G>A
ENST00000319441.5:c.1319-208G>A ENSP00000319814.4:n.1319-208G>A
ENST00000467047.1:n.3753G>A
ENST00000485958.1:n.443-208G>A
NM_002591.3:c.1319-208G>A NP_002582.3:n.1319-208G>A
XM_011528839.1:c.923-208G>A XP_011527141.1:n.923-208G>A
XM_024451888.1:c.923-208G>A XP_024307656.1:n.923-208G>A
NM_002591.4:c.1319-208G>A MANE Select NP_002582.3:n.1319-208G>A
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