Canonical Allele Identifier: CA2481224624
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290090C= , CM000663.2:g.155290090C= GRCh38
NC_000001.10:g.155259881C= , CM000663.1:g.155259881C= GRCh37
NC_000001.9:g.153526505C= NCBI36
NG_011677.1:g.16345G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*482G= MANE Select ENSP00000339933.4:n.*482G=
ENST00000392414.7:c.*482G= ENSP00000376214.3:n.*482G=
NM_000298.5:c.*482G= NP_000289.1:n.*482G=
NM_181871.3:c.*482G= NP_870986.1:n.*482G=
NM_000298.6:c.*482G= MANE Select NP_000289.1:n.*482G=
NM_181871.4:c.*482G= NP_870986.1:n.*482G=