Canonical Allele Identifier: CA10607955
Gene: PKLR HGNC NCBI

Linked Data

ClinVar Variation Id: 292796
ClinVar RCV Id: RCV000381171
dbSNP Id: rs758139094
gnomAD v2: 1-155259781-C-T
gnomAD v3: 1-155289990-C-T
gnomAD v4: 1-155289990-C-T
MyVariant Identifiers: chr1:g.155259781C>T (hg19) chr1:g.155289990C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155289990C>T , CM000663.2:g.155289990C>T GRCh38
NC_000001.10:g.155259781C>T , CM000663.1:g.155259781C>T GRCh37
NC_000001.9:g.153526405C>T NCBI36
NG_011677.1:g.16445G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*582G>A MANE Select ENSP00000339933.4:n.*582G>A
ENST00000392414.7:c.*582G>A ENSP00000376214.3:n.*582G>A
NM_000298.5:c.*582G>A NP_000289.1:n.*582G>A
NM_181871.3:c.*582G>A NP_870986.1:n.*582G>A
NM_000298.6:c.*582G>A MANE Select NP_000289.1:n.*582G>A
NM_181871.4:c.*582G>A NP_870986.1:n.*582G>A
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