Canonical Allele Identifier: CA9922058
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs371728787
ExAC: 20:56137898 G / A
gnomAD v2: 20-56137898-G-A
gnomAD v3: 20-57562842-G-A
gnomAD v4: 20-57562842-G-A
MyVariant Identifiers: chr20:g.56137898G>A (hg19) chr20:g.57562842G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562842G>A , CM000682.2:g.57562842G>A GRCh38
NC_000020.10:g.56137898G>A , CM000682.1:g.56137898G>A GRCh37
NC_000020.9:g.55571304G>A NCBI36
NG_008205.1:g.6762G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.553G>A MANE Select ENSP00000319814.4:p.Gly185Ser
ENST00000319441.5:c.553G>A ENSP00000319814.4:p.Gly185Ser
ENST00000467047.1:n.1763G>A
ENST00000470051.1:n.9G>A
ENST00000498194.1:n.495G>A
NM_002591.3:c.553G>A NP_002582.3:p.Gly185Ser
XM_011528839.1:c.157G>A XP_011527141.1:p.Gly53Ser
XM_024451888.1:c.157G>A XP_024307656.1:p.Gly53Ser
NM_002591.4:c.553G>A MANE Select NP_002582.3:p.Gly185Ser
Search 100 bp 5'
Search 100 bp 3'