Canonical Allele Identifier: CA2481224668
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290194C= , CM000663.2:g.155290194C= GRCh38
NC_000001.10:g.155259985C= , CM000663.1:g.155259985C= GRCh37
NC_000001.9:g.153526609C= NCBI36
NG_011677.1:g.16241G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*378G= MANE Select ENSP00000339933.4:n.*378G=
ENST00000392414.7:c.*378G= ENSP00000376214.3:n.*378G=
NM_000298.5:c.*378G= NP_000289.1:n.*378G=
NM_181871.3:c.*378G= NP_870986.1:n.*378G=
NM_000298.6:c.*378G= MANE Select NP_000289.1:n.*378G=
NM_181871.4:c.*378G= NP_870986.1:n.*378G=