Canonical Allele Identifier: CA2653461243

Gene: PCK1

Linked Data

• gnomAD v4: 20-57564818-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.57564818A>G , CM000682.2:g.57564818A>G	GRCh38
NC_000020.10:g.56139874A>G , CM000682.1:g.56139874A>G	GRCh37
NC_000020.9:g.55573280A>G	NCBI36
NG_008205.1:g.8738A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000319441.6:c.1318+205A>G MANE Select	ENSP00000319814.4:n.1318+205A>G
ENST00000319441.5:c.1318+205A>G	ENSP00000319814.4:n.1318+205A>G
ENST00000467047.1:n.3739A>G
ENST00000485958.1:n.442+205A>G
NM_002591.3:c.1318+205A>G	NP_002582.3:n.1318+205A>G
XM_011528839.1:c.922+205A>G	XP_011527141.1:n.922+205A>G
XM_024451888.1:c.922+205A>G	XP_024307656.1:n.922+205A>G
NM_002591.4:c.1318+205A>G MANE Select	NP_002582.3:n.1318+205A>G