Canonical Allele Identifier: CA2481224644
Gene: PKLR HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290136A= , CM000663.2:g.155290136A= GRCh38
NC_000001.10:g.155259927A= , CM000663.1:g.155259927A= GRCh37
NC_000001.9:g.153526551A= NCBI36
NG_011677.1:g.16299T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*436T= MANE Select ENSP00000339933.4:n.*436T=
ENST00000392414.7:c.*436T= ENSP00000376214.3:n.*436T=
NM_000298.5:c.*436T= NP_000289.1:n.*436T=
NM_181871.3:c.*436T= NP_870986.1:n.*436T=
NM_000298.6:c.*436T= MANE Select NP_000289.1:n.*436T=
NM_181871.4:c.*436T= NP_870986.1:n.*436T=
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