Canonical Allele Identifier: CA9922084
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs769716785
ExAC: 20:56138004 A / T
gnomAD v2: 20-56138004-A-T
gnomAD v4: 20-57562948-A-T
MyVariant Identifiers: chr20:g.56138004A>T (hg19) chr20:g.57562948A>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562948A>T , CM000682.2:g.57562948A>T GRCh38
NC_000020.10:g.56138004A>T , CM000682.1:g.56138004A>T GRCh37
NC_000020.9:g.55571410A>T NCBI36
NG_008205.1:g.6868A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.610+49A>T MANE Select ENSP00000319814.4:n.610+49A>T
ENST00000319441.5:c.610+49A>T ENSP00000319814.4:n.610+49A>T
ENST00000467047.1:n.1869A>T
ENST00000470051.1:n.115A>T
ENST00000498194.1:n.552+49A>T
NM_002591.3:c.610+49A>T NP_002582.3:n.610+49A>T
XM_011528839.1:c.214+49A>T XP_011527141.1:n.214+49A>T
XM_024451888.1:c.214+49A>T XP_024307656.1:n.214+49A>T
NM_002591.4:c.610+49A>T MANE Select NP_002582.3:n.610+49A>T
Search 100 bp 5'
Search 100 bp 3'