Canonical Allele Identifier: CA409435133
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1342768636
gnomAD v2: 20-56137851-G-A
gnomAD v3: 20-57562795-G-A
gnomAD v4: 20-57562795-G-A
MyVariant Identifiers: chr20:g.56137851G>A (hg19) chr20:g.57562795G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562795G>A , CM000682.2:g.57562795G>A GRCh38
NC_000020.10:g.56137851G>A , CM000682.1:g.56137851G>A GRCh37
NC_000020.9:g.55571257G>A NCBI36
NG_008205.1:g.6715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.506G>A MANE Select ENSP00000319814.4:p.Ser169Asn
ENST00000319441.5:c.506G>A ENSP00000319814.4:p.Ser169Asn
ENST00000467047.1:n.1716G>A
ENST00000498194.1:n.448G>A
NM_002591.3:c.506G>A NP_002582.3:p.Ser169Asn
XM_011528839.1:c.110G>A XP_011527141.1:p.Ser37Asn
XM_024451888.1:c.110G>A XP_024307656.1:p.Ser37Asn
NM_002591.4:c.506G>A MANE Select NP_002582.3:p.Ser169Asn
Search 100 bp 5'
Search 100 bp 3'