Canonical Allele Identifier: CA2481224684
Gene: PKLR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290244C= , CM000663.2:g.155290244C= GRCh38
NC_000001.10:g.155260035C= , CM000663.1:g.155260035C= GRCh37
NC_000001.9:g.153526659C= NCBI36
NG_011677.1:g.16191G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*328G= MANE Select ENSP00000339933.4:n.*328G=
ENST00000392414.7:c.*328G= ENSP00000376214.3:n.*328G=
NM_000298.5:c.*328G= NP_000289.1:n.*328G=
NM_181871.3:c.*328G= NP_870986.1:n.*328G=
NM_000298.6:c.*328G= MANE Select NP_000289.1:n.*328G=
NM_181871.4:c.*328G= NP_870986.1:n.*328G=