Canonical Allele Identifier: CA511310988
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs2070194005
gnomAD v4: 20-57565438-C-G
MyVariant Identifiers: chr20:g.56140494C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565438C>G , CM000682.2:g.57565438C>G GRCh38
NC_000020.10:g.56140494C>G , CM000682.1:g.56140494C>G GRCh37
NC_000020.9:g.55573900C>G NCBI36
NG_008205.1:g.9358C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1503C>G MANE Select ENSP00000319814.4:p.Ala501=
ENST00000319441.5:c.1503C>G ENSP00000319814.4:p.Ala501=
ENST00000467047.1:n.4145C>G
NM_002591.3:c.1503C>G NP_002582.3:p.Ala501=
XM_011528839.1:c.1107C>G XP_011527141.1:p.Ala369=
XM_024451888.1:c.1107C>G XP_024307656.1:p.Ala369=
NM_002591.4:c.1503C>G MANE Select NP_002582.3:p.Ala501=
Search 100 bp 5'
Search 100 bp 3'