Canonical Allele Identifier: CA2648266355
Gene: PKLR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.155290199C>A , CM000663.2:g.155290199C>A GRCh38
NC_000001.10:g.155259990C>A , CM000663.1:g.155259990C>A GRCh37
NC_000001.9:g.153526614C>A NCBI36
NG_011677.1:g.16236G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000342741.6:c.*373G>T MANE Select ENSP00000339933.4:n.*373G>T
ENST00000392414.7:c.*373G>T ENSP00000376214.3:n.*373G>T
NM_000298.5:c.*373G>T NP_000289.1:n.*373G>T
NM_181871.3:c.*373G>T NP_870986.1:n.*373G>T
NM_000298.6:c.*373G>T MANE Select NP_000289.1:n.*373G>T
NM_181871.4:c.*373G>T NP_870986.1:n.*373G>T