Canonical Allele Identifier: CA1018823321
Gene: PCK1 HGNC NCBI

Linked Data

gnomAD v3: 20-57562984-G-T
gnomAD v4: 20-57562984-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57562984G>T , CM000682.2:g.57562984G>T GRCh38
NC_000020.10:g.56138040G>T , CM000682.1:g.56138040G>T GRCh37
NC_000020.9:g.55571446G>T NCBI36
NG_008205.1:g.6904G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.611-44G>T MANE Select ENSP00000319814.4:n.611-44G>T
ENST00000319441.5:c.611-44G>T ENSP00000319814.4:n.611-44G>T
ENST00000467047.1:n.1905G>T
ENST00000470051.1:n.151G>T
ENST00000498194.1:n.553-44G>T
NM_002591.3:c.611-44G>T NP_002582.3:n.611-44G>T
XM_011528839.1:c.215-44G>T XP_011527141.1:n.215-44G>T
XM_024451888.1:c.215-44G>T XP_024307656.1:n.215-44G>T
NM_002591.4:c.611-44G>T MANE Select NP_002582.3:n.611-44G>T
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