Canonical Allele Identifier: CA409437253
Gene: PCK1 HGNC NCBI

Linked Data

dbSNP Id: rs1337464300
gnomAD v2: 20-56140468-T-C
gnomAD v4: 20-57565412-T-C
MyVariant Identifiers: chr20:g.56140468T>C (hg19) chr20:g.57565412T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.57565412T>C , CM000682.2:g.57565412T>C GRCh38
NC_000020.10:g.56140468T>C , CM000682.1:g.56140468T>C GRCh37
NC_000020.9:g.55573874T>C NCBI36
NG_008205.1:g.9332T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000319441.6:c.1477T>C MANE Select ENSP00000319814.4:p.Tyr493His
ENST00000319441.5:c.1477T>C ENSP00000319814.4:p.Tyr493His
ENST00000467047.1:n.4119T>C
NM_002591.3:c.1477T>C NP_002582.3:p.Tyr493His
XM_011528839.1:c.1081T>C XP_011527141.1:p.Tyr361His
XM_024451888.1:c.1081T>C XP_024307656.1:p.Tyr361His
NM_002591.4:c.1477T>C MANE Select NP_002582.3:p.Tyr493His
Search 100 bp 5'
Search 100 bp 3'