Canonical Allele Identifier: CA636606527
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1360745595
gnomAD v2: 20-56137728-G-A
gnomAD v4: 20-57562672-G-A
MyVariant Identifiers: chr20:g.56137728G>A (hg19) chr20:g.57562672G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562672G>A , CM000682.2:g.57562672G>A GRCh38
NC_000020.10:g.56137728G>A , CM000682.1:g.56137728G>A GRCh37
NC_000020.9:g.55571134G>A NCBI36
NG_008205.1:g.6592G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.407-24G>A MANE Select ENSP00000319814.4:n.407-24G>A
ENST00000319441.5:c.407-24G>A ENSP00000319814.4:n.407-24G>A
ENST00000467047.1:n.1593G>A
ENST00000498194.1:n.325G>A
NM_002591.3:c.407-24G>A NP_002582.3:n.407-24G>A
XM_011528839.1:c.11-24G>A XP_011527141.1:n.11-24G>A
XM_024451888.1:c.11-24G>A XP_024307656.1:n.11-24G>A
NM_002591.4:c.407-24G>A MANE Select NP_002582.3:n.407-24G>A
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