Canonical Allele Identifier: CA2648266213
Gene: PKLR HGNC NCBI

Linked Data

gnomAD v4: 1-155290034-C-T
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290034C>T , CM000663.2:g.155290034C>T GRCh38
NC_000001.10:g.155259825C>T , CM000663.1:g.155259825C>T GRCh37
NC_000001.9:g.153526449C>T NCBI36
NG_011677.1:g.16401G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*538G>A MANE Select ENSP00000339933.4:n.*538G>A
ENST00000392414.7:c.*538G>A ENSP00000376214.3:n.*538G>A
NM_000298.5:c.*538G>A NP_000289.1:n.*538G>A
NM_181871.3:c.*538G>A NP_870986.1:n.*538G>A
NM_000298.6:c.*538G>A MANE Select NP_000289.1:n.*538G>A
NM_181871.4:c.*538G>A NP_870986.1:n.*538G>A
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